All transcript variants in gene KCNJ2

Information The variants shown are described using the NM_000891.2 transcript reference sequence.

159 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-158_-157insGTAGTCAGA r.(?) p.(=) - likely benign g.68171023_68171024insGTAGTCAGA g.70174882_70174883insGTAGTCAGA - - KCNJ2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-2C>T r.(?) p.(=) - likely benign g.68171179C>T g.70175038C>T KCNJ2(NM_000891.2):c.-2C>T - KCNJ2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 2 c.283-_294+del r.(?) p.(Ser95_Phe98del) - pathogenic g.? - - - KCNJ2_000019 M1, buried residue, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking) PubMed: Plaster 2001 - - Germline - 1/16 ATS families - 0 - Ikuko Takeda
+/? 2 c.940-_945+del r.(?) p.(Ser314_Tyr315del) - pathogenic g.? - - - KCNJ2_000059 G-loop in cytoplasmic, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking), golgi export motif PubMed: Yoon 2006 PubMed: Plaster 2001 - - De novo - 1/16 ATS families - 0 - Ikuko Takeda
?/? 2 c.118C>T r.(?) p.(Arg40*) - VUS g.68171298C>T g.70175157C>T - - KCNJ2_000002 cytoplamic, N-terminus PubMed: Kuramoto 2012 - - Unknown - - - 0 - Ikuko Takeda
?/. - c.146A>G r.(?) p.(Lys49Arg) - VUS g.68171326A>G g.70175185A>G - - KCNJ2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2 c.161G>T r.(?) p.(Cys54Phe) - pathogenic g.68171341G>T g.70175200G>T - - KCNJ2_000003 cytoplasmic PubMed: Bendahhou 2007 - - Germline - - - 0 - Ikuko Takeda
-/. - c.174C>T r.(?) p.(Phe58=) - benign g.68171354C>T g.70175213C>T KCNJ2(NM_000891.2):c.174C>T (p.F58=) - KCNJ2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 2 c.199C>T r.(?) p.(Arg67Trp) - pathogenic g.68171379C>T g.70175238C>T - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Andelfinger 2002 - - Germline - 41/77 in the family - 0 - Ikuko Takeda
+/? 2 c.199C>T r.(?) p.(Arg67Trp) - pathogenic g.68171379C>T g.70175238C>T - - KCNJ2_000004 KJ-01, PIP2 binding, cytoplasmic PubMed: Haruna 2007 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.199C>T r.(?) p.(Arg67Trp) - pathogenic g.68171379C>T g.70175238C>T - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Donaldson 2003 - - De novo - 2/17 ATS probands - 0 - Ikuko Takeda
+/? 2 c.199C>T r.(?) p.(Arg67Trp) - pathogenic g.68171379C>T g.70175238C>T - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Donaldson 2003 - - Unknown - 2/17 ATS probands - 0 - Ikuko Takeda
+/? 2 c.199C>T r.(?) p.(Arg67Trp) - pathogenic g.68171379C>T g.70175238C>T - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Davies 2005 - - De novo - 2/>140 periodic paralysis - 0 - Ikuko Takeda
+/? 2 c.199C>T r.(?) p.(Arg67Trp) - pathogenic g.68171379C>T g.70175238C>T - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Davies 2005 - - Germline - 2/>140 periodic paralysis - 0 - Ikuko Takeda
+/? 2 c.199C>T r.(?) p.(Arg67Trp) - pathogenic g.68171379C>T g.70175238C>T - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Kimura 2012 - - Unknown - - - 0 - Ikuko Takeda
+?/? 2 c.200G>A r.(?) p.(Arg67Gln) - likely pathogenic g.68171380G>A g.70175239G>A - - KCNJ2_000005 PIP2 binding, no dominant negative effect when co-expressed with WT, cytoplasmic / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS) PubMed: Eckhardt 2007 - - Unknown - 1/541 patients* - 0 - Ikuko Takeda
+/? 2 c.200G>A r.(?) p.(Arg67Gln) - pathogenic g.68171380G>A g.70175239G>A - - KCNJ2_000005 Kindred 323, PIP2 binding, trafficking defect, dominant negative effect PubMed: Haruna 2007 - - Germline - - - 0 - Ikuko Takeda
+?/. - c.200G>A r.(?) p.(Arg67Gln) - likely pathogenic g.68171380G>A g.70175239G>A - - KCNJ2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/? 2 c.202T>G r.(?) p.(Tyr68Asp) - likely pathogenic g.68171382T>G g.70175241T>G - - KCNJ2_000006 cytoplasmic, slide helix PubMed: Davies 2005 - - Germline - 1/>140 periodic paralysis - 0 - Ikuko Takeda
?/. - c.208G>T r.(?) p.(Ala70Ser) - VUS g.68171388G>T g.70175247G>T KCNJ2(NM_000891.2):c.208G>T (p.A70S) - KCNJ2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/? 2 c.211G>A r.(?) p.(Asp71Asn) - VUS g.68171391G>A g.70175250G>A - - KCNJ2_000007 cytoplasmic, slide helix PubMed: Donaldson 2003 - - De novo - 1/17 ATS probands - 0 - Ikuko Takeda
+/? 2 c.211G>T r.(?) p.(Asp71Tyr) - pathogenic g.68171391G>T g.70175250G>T - - KCNJ2_000008 cytoplasmic, slide helix PubMed: Marrus 2011 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.212A>T r.(?) p.(Asp71Val) - pathogenic g.68171392A>T g.70175251A>T - - KCNJ2_000009 cytoplasmic, slide helix, dominant negative PubMed: Plaster 2001 - - Germline - 1/16 ATS families - 0 - Ikuko Takeda
?/. - c.213C>A r.(?) p.(Asp71Glu) - VUS g.68171393C>A g.70175252C>A KCNJ2(NM_000891.2):c.213C>A (p.D71E) - KCNJ2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 2 c.220A>G r.(?) p.(Thr74Ala) - pathogenic g.68171400A>G g.70175259A>G - - KCNJ2_000010 slide helix, channel gating, PIP2 sensitivity PubMed: Ballester 2006 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.223A>G r.(?) p.(Thr75Ala) - pathogenic g.68171403A>G g.70175262A>G - - KCNJ2_000011 cytoplasmic, slide helix, dominant negative effect PubMed: Fodstad 2004 - - Germline - 1/188 LQT patients - 0 - Ikuko Takeda
+/? 2 c.224C>G r.(?) p.(Thr75Arg) - pathogenic g.68171404C>G g.70175263C>G - - KCNJ2_000012 cytoplasmic, slide helix PubMed: Yoon 2006 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.224C>G r.(?) p.(Thr75Arg) - pathogenic g.68171404C>G g.70175263C>G - - KCNJ2_000012 cytoplasmic, slide helix PubMed: Donaldson 2003 - - De novo - 1/17 ATS probands - 0 - Ikuko Takeda
+/? 2 c.224C>G r.(?) p.(Thr75Arg) - pathogenic g.68171404C>G g.70175263C>G - - KCNJ2_000012 cytoplasmic, slide helix PubMed: Lu 2006 - - Germline - - - 0 - Ikuko Takeda
+/. - c.224C>G r.(?) p.(Thr75Arg) - pathogenic g.68171404C>G g.70175263C>G - - KCNJ2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2 c.224C>T r.(?) p.(Thy75Met) - pathogenic g.68171404C>T g.70175263C>T - - KCNJ2_000013 cytoplasmic region, slide helix, N-terminus, defective tafficking, no dominant negative effect PubMed: Tani 2007 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.224C>T r.(?) p.(Thy75Met) - pathogenic g.68171404C>T g.70175263C>T - - KCNJ2_000013 cytoplasmic region, slide helix, N-terminus, dominant negative effect, normal trafficking / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS) PubMed: Eckhardt 2007 - - Unknown - 1/541 patients* - 0 - Ikuko Takeda
+/? 2 c.224C>T r.(?) p.(Thy75Met) - pathogenic g.68171404C>T g.70175263C>T - - KCNJ2_000013 cytoplasmic, slide helix, dominant negative effect PubMed: Davies 2005 - - Unknown - 1/>140 periodic paralysis - 0 - Ikuko Takeda
+/. - c.224C>T r.(?) p.(Thr75Met) - pathogenic g.68171404C>T g.70175263C>T KCNJ2(NM_000891.2):c.224C>T (p.T75M) - KCNJ2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.230T>A r.(?) p.(Val77Glu) - likely pathogenic (dominant) g.68171410T>A g.70175269T>A - - KCNJ2_000095 de novo in patient Handklo-Jamal, submitted 2019 - - De novo yes - - 0 - Shimrit Oz
?/? 2 c.232G>T r.(?) p.(Asp78Tyr) - VUS g.68171412G>T g.70175271G>T - - KCNJ2_000014 cytoplasmic, slide helix PubMed: Yoon 2006 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.233A>G r.(?) p.(Asp78Gly) - pathogenic g.68171413A>G g.70175272A>G - - KCNJ2_000015 cytoplasmic, slide helix PubMed: Davies 2005 - - Unknown - 1/>140 periodic paralysis - 0 - Ikuko Takeda
+/? 2 c.244C>T r.(?) p.(Arg82Trp) - pathogenic g.68171424C>T g.70175283C>T - - KCNJ2_000016 M1 / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS) PubMed: Eckhardt 2007 - - Unknown - 1/541 patients* - 0 - Ikuko Takeda
+/? 2 c.244C>T r.(?) p.(Arg82Trp) - pathogenic g.68171424C>T g.70175283C>T - - KCNJ2_000016 M1 / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients PubMed: Tester 2006 - - Unknown - 2/541 patients* - 0 - Ikuko Takeda
+/? 2 c.244C>T r.(?) p.(Arg82Trp) - pathogenic g.68171424C>T g.70175283C>T - - KCNJ2_000016 M1 / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients PubMed: Tester 2006 - - Unknown - 2/541 patients* - 0 - Ikuko Takeda
+/? 2 c.244C>T r.(?) p.(Arg82Trp) - pathogenic g.68171424C>T g.70175283C>T - - KCNJ2_000016 M1 PubMed: Kimura 2012 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.244C>T r.(?) p.(Arg82Trp) - pathogenic g.68171424C>T g.70175283C>T - - KCNJ2_000016 M1, KCNH2 P1093L PubMed: Kuramoto 2012 - - Unknown - - - 0 - Ikuko Takeda
+/. - c.244C>T r.(?) p.(Arg82Trp) - pathogenic g.68171424C>T g.70175283C>T - - KCNJ2_000016 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs199473373 Germline - 2/2795 individuals - 0 - Mohammed Faruq
+/? 2 c.245G>A r.(?) p.(Arg82Gln) - pathogenic g.68171425G>A g.70175284G>A - - KCNJ2_000017 M1 PubMed: Davies 2005 - - Germline - 1/>140 periodic paralysis - 0 - Ikuko Takeda
+/? 2 c.245G>A r.(?) p.(Arg82Gln) - pathogenic g.68171425G>A g.70175284G>A - - KCNJ2_000017 M1 PubMed: Kimura 2012 - - Unknown - - - 0 - Ikuko Takeda
?/. - c.248G>T r.(?) p.(Trp83Leu) - VUS g.68171428G>T g.70175287G>T KCNJ2(NM_000891.2):c.248G>T (p.W83L) - KCNJ2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 2 c.277G>A r.(?) p.(Ile93Val) - pathogenic g.68171457G>A g.70175316G>A - - KCNJ2_000018 M1 PubMed: Xia 2005 - - Germline - 1/30 AF families - 0 - Ikuko Takeda
?/. - c.277G>A r.(?) p.(Val93Ile) - VUS g.68171457G>A g.70175316G>A - - KCNJ2_000018 conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs147750704 Germline - 9/2795 individuals - 0 - Mohammed Faruq
+?/? 2 c.281T>C r.(?) p.(Leu94Pro) - likely pathogenic g.68171461T>C g.70175320T>C - - KCNJ2_000001 - - - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.301T>C r.(?) p.(Cys101Arg) - pathogenic g.68171481T>C g.70175340T>C - - KCNJ2_000020 M1, lipid-facing PubMed: Chun 2004 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.301T>C r.(?) p.(Cys101Arg) - pathogenic g.68171481T>C g.70175340T>C - - KCNJ2_000020 M1, lipid-facing PubMed: Zhang 2005 PubMed: Ballester 2006 - - Unknown - - - 0 - Ikuko Takeda
+?/? 2 c.368T>G r.(?) p.(Val123Gly) - likely pathogenic g.68171548T>G g.70175407T>G - - KCNJ2_000021 pore region PubMed: Davies 2005 - - Unknown - 1/>140 periodic paralysis - 0 - Ikuko Takeda
+/? 2 c.407C>T r.(?) p.(Ser136Phe) - pathogenic g.68171587C>T g.70175446C>T - - KCNJ2_000022 pore helix PubMed: Plaster 2001 - - Unknown - 1/16 ATS families - 0 - Ikuko Takeda
+/? 2 c.430G>A r.(?) p.(Gly144Ser) - pathogenic g.68171610G>A g.70175469G>A - - KCNJ2_000023 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Plaster 2001 - - De novo - 1/16 ATS families - 0 - Ikuko Takeda
+/? 2 c.430G>A r.(?) p.(Gly144Ser) - pathogenic g.68171610G>A g.70175469G>A - - KCNJ2_000023 G-loop in cytoplasmic, pore region, selectivity filter residues GYG, heterozygous for a KCNQ1 mutation (c.1022C>T PubMed: Haruna 2007 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.431G>A r.(?) p.(Gly144Asp) - pathogenic g.68171611G>A g.70175470G>A - - KCNJ2_000024 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Kimura 2012 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.431G>A r.(?) p.(Gly144Asp) - pathogenic g.68171611G>A g.70175470G>A - - KCNJ2_000024 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Lim 2010 - - De novo - - - 0 - Ikuko Takeda
+/? 2 c.431G>C r.(?) p.(Gly144Ala) - pathogenic g.68171611G>C g.70175470G>C - - KCNJ2_000025 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Ballester 2006 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.436G>A r.(?) p.(Gly146Ser) - pathogenic g.68171616G>A g.70175475G>A - - KCNJ2_000026 G-loop in cytoplasmic, pore region, selectivity filter residues GYG, trafficking defect, dominat negative effect PubMed: Haruna 2007 - - De novo - - - 0 - Ikuko Takeda
?/? 2 c.437G>A r.(?) p.(Gly146Asp) - VUS g.68171617G>A g.70175476G>A - - KCNJ2_000027 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Yoon 2006 - - Germline - - - 0 - Ikuko Takeda
?/? 2 c.437G>A r.(?) p.(Gly146Asp) - VUS g.68171617G>A g.70175476G>A - - KCNJ2_000027 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Donaldson 2003 - - Germline - 1/17 ATS probands - 0 - Ikuko Takeda
?/? 2 c.437G>C r.(?) p.(Gly146Ala) - VUS g.68171617G>C g.70175476G>C - - KCNJ2_000028 G-loop in cytoplasmic, pore region, selectivity filter residues GYG, trafficking defect, dominat negative effect PubMed: Kim 2009 - - De novo - - - 0 - Ikuko Takeda
+?/? 2 c.461G>A r.(?) p.(Cys154Tyr) - likely pathogenic g.68171641G>A g.70175500G>A - - KCNJ2_000029 M2, C154 and C122 critical for proper channel folding PubMed: Sacconi 2009 - - Germline - - - 0 - Ikuko Takeda
+?/? 2 c.461G>T r.(?) p.(Cys154Phe) - likely pathogenic g.68171641G>T g.70175500G>T - - KCNJ2_000030 M2, C154 and C122 critical for proper channel folding PubMed: Bendahhou 2005 - - Unknown - - - 0 - Ikuko Takeda
+?/. - c.476T>C r.(?) p.(Phe159Ser) - likely pathogenic g.68171656T>C g.70175515T>C - - KCNJ2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2 c.488_493del r.(?) p.(Phe163_Gln164del) - pathogenic g.68171668_68171673del g.70175527_70175532del - - KCNJ2_000031 M2, 164; buried residue PubMed: Fodstad 2004 - - De novo - 1/188 LQT patients - 0 - Ikuko Takeda
+/? 2 c.514G>A r.(?) p.(Asp172Asn) - pathogenic g.68171694G>A g.70175553G>A - - KCNJ2_000032 M2, pore-lining, control of polyamine-mediated channel gating, rectification PubMed: Priori 2005 PubMed: El Harchi 2009 - - Germline - - - 0 - Ikuko Takeda
?/. 2 c.532G>A r.(?) p.(Ala178Thr) - VUS g.68171712G>A g.70175571G>A - - KCNJ2_000070 - PubMed: Allegue 2015, Journal: Allegue 2015 - - Germline yes - - 0 - Anna Iglesias
+/? 2 c.557C>T r.(?) p.(Pro186Leu) - pathogenic g.68171737C>T g.70175596C>T - - KCNJ2_000033 cytoplasmic, PKKR motif (186-189) implicated in binding PIP2 PubMed: Tristani 2002 - - Unknown - - - 0 - Ikuko Takeda
?/? 2 c.566G>T r.(?) p.(Arg189Ile) - VUS g.68171746G>T g.70175605G>T - - KCNJ2_000034 cytoplasmic, PKKR motif, PIP2 binding PubMed: Donaldson, 2003 - - Germline - 1/17 ATS probands - 0 - Ikuko Takeda
+/? 2 c.574A>G r.(?) p.(Thr192Ala) - pathogenic g.68171754A>G g.70175613A>G - - KCNJ2_000035 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Ai 2002 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.574A>G r.(?) p.(Thr192Ala) - pathogenic g.68171754A>G g.70175613A>G - - KCNJ2_000035 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Haruna 2007 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.574A>G r.(?) p.(Thr192Ala) - pathogenic g.68171754A>G g.70175613A>G - - KCNJ2_000035 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Nagase 2007 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.574A>G r.(?) p.(Thr192Ala) - pathogenic g.68171754A>G g.70175613A>G - - KCNJ2_000035 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Nagashima 2010 - - Unknown - - - 0 - Ikuko Takeda
?/? 2 c.575C>T r.(?) p.(Thr192Ile) - VUS g.68171755C>T g.70175614C>T - - KCNJ2_000036 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Chan 2010 - - Germline - - - 0 - Ikuko Takeda
-?/. - c.597C>T r.(?) p.(Ala199=) - likely benign g.68171777C>T g.70175636C>T KCNJ2(NM_000891.2):c.597C>T (p.A199=) - KCNJ2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.597C>T r.(?) p.(Ala199=) - likely benign g.68171777C>T g.70175636C>T KCNJ2(NM_000891.2):c.597C>T (p.A199=) - KCNJ2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.616G>A r.(?) p.(Gly206Ser) - VUS g.68171796G>A g.70175655G>A - - KCNJ2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.631A>C r.(?) p.(Met211Leu) - VUS g.68171811A>C g.70175670A>C KCNJ2(NM_000891.2):c.631A>C (p.M211L) - KCNJ2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 2 c.644G>A r.(?) p.(Gly215Asp) - pathogenic g.68171824G>A g.70175683G>A - - KCNJ2_000037 C-terminus, essential for the aassembly of Kir2.1 PubMed: Hosaka 2003 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.644G>A r.(?) p.(Gly215Asp) - pathogenic g.68171824G>A g.70175683G>A - - KCNJ2_000037 C-terminus, essential for the aassembly of Kir2.1 PubMed: Haruna 2007 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.644G>A r.(?) p.(Gly215Asp) - pathogenic g.68171824G>A g.70175683G>A - - KCNJ2_000037 C-terminus, essential for the aassembly of Kir2.1 PubMed: Lim 2010 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.646A>C r.(?) p.(Asn216His) - pathogenic g.68171826A>C g.70175685A>C - - KCNJ2_000038 CD loop of cytosolic domain, affect the sensitivity to cholesterol PubMed: Tristani 2002 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.650T>C r.(?) p.(Leu217Pro) - pathogenic g.68171830T>C g.70175689T>C - - KCNJ2_000039 cytoplasmic PubMed: Davies 2005 - - Unknown - 1/>140 periodic paralysis - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Lange 2003 PubMed: Yoon 2006 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop,PIP2 binding, interaction with Thr309 PubMed: Yoon 2006 PubMed: Plaster 2001 - - De novo - 4/16 ATS families - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop,interaction with Thr309 PubMed: Plaster 2001 - - De novo - 4/16 ATS families - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop,PIP2 binding, interaction with Thr309 PubMed: Plaster 2001 - - Unknown - 4/16 ATS families - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 Kindred2679, cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tristani 2002 - - De novo - 4/16 ATS families - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 Kindred7480, cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tristani 2002 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Donaldson 2003 - - Germline - 1/17 ATS probands - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Davies 2005 - - Germline - 2/>140 periodic paralysis - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Davies 2005 - - Unknown - 2/>140 periodic paralysis - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - De novo - - - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Weir 2011 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Schoonderwoerd 2006 - - Germline - - - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Subbiah 2008 - - Unknown - - - 0 - Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tengan 2006 - - De novo - - - 0 - Ikuko Takeda
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