Transcript #00010371

Transcript name potassium inwardly-rectifying channel, subfamily J, member 2
Gene name KCNJ2 (potassium inwardly-rectifying channel, subfamily J, member 2)
Chromosome 17
Transcript - NCBI ID NM_000891.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000882.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

146 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-158_-157insGTAGTCAGA likely benign r.(?) p.(=)
-?/. - c.-2C>T likely benign r.(?) p.(=)
+/? 2 c.283-_294+del - r.(?) p.(Ser95_Phe98del)
+/? 2 c.940-_945+del - r.(?) p.(Ser314_Tyr315del)
?/? 2 c.118C>T - r.(?) p.(Arg40*)
?/. - c.146A>G VUS r.(?) p.(Lys49Arg)
+/? 2 c.161G>T - r.(?) p.(Cys54Phe)
-/. - c.174C>T benign r.(?) p.(=)
+/? 2 c.199C>T - r.(?) p.(Arg67Trp)
+/? 2 c.199C>T - r.(?) p.(Arg67Trp)
+/? 2 c.199C>T - r.(?) p.(Arg67Trp)
+/? 2 c.199C>T - r.(?) p.(Arg67Trp)
+/? 2 c.199C>T - r.(?) p.(Arg67Trp)
+/? 2 c.199C>T - r.(?) p.(Arg67Trp)
+/? 2 c.199C>T - r.(?) p.(Arg67Trp)
+?/? 2 c.200G>A - r.(?) p.(Arg67Gln)
+/? 2 c.200G>A - r.(?) p.(Arg67Gln)
+?/. - c.200G>A likely pathogenic r.(?) p.(Arg67Gln)
+?/? 2 c.202T>G - r.(?) p.(Tyr68Asp)
?/. - c.208G>T VUS r.(?) p.(Ala70Ser)
?/? 2 c.211G>A - r.(?) p.(Asp71Asn)
+/? 2 c.211G>T - r.(?) p.(Asp71Tyr)
+/? 2 c.212A>T - r.(?) p.(Asp71Val)
?/. - c.213C>A VUS r.(?) p.(Asp71Glu)
+/? 2 c.220A>G - r.(?) p.(Thr74Ala)
+/? 2 c.223A>G - r.(?) p.(Thr75Ala)
+/? 2 c.224C>G - r.(?) p.(Thr75Arg)
+/? 2 c.224C>G - r.(?) p.(Thr75Arg)
+/? 2 c.224C>G - r.(?) p.(Thr75Arg)
+/. - c.224C>G pathogenic r.(?) p.(Thr75Arg)
+/? 2 c.224C>T - r.(?) p.(Thy75Met)
+/? 2 c.224C>T - r.(?) p.(Thy75Met)
+/? 2 c.224C>T - r.(?) p.(Thy75Met)
+/. - c.224C>T pathogenic r.(?) p.(Thr75Met)
?/? 2 c.232G>T - r.(?) p.(Asp78Tyr)
+/? 2 c.233A>G - r.(?) p.(Asp78Gly)
+/? 2 c.244C>T - r.(?) p.(Arg82Trp)
+/? 2 c.244C>T - r.(?) p.(Arg82Trp)
+/? 2 c.244C>T - r.(?) p.(Arg82Trp)
+/? 2 c.244C>T - r.(?) p.(Arg82Trp)
+/? 2 c.244C>T - r.(?) p.(Arg82Trp)
+/? 2 c.245G>A - r.(?) p.(Arg82Gln)
+/? 2 c.245G>A - r.(?) p.(Arg82Gln)
?/. - c.248G>T VUS r.(?) p.(Trp83Leu)
+/? 2 c.277G>A - r.(?) p.(Ile93Val)
+?/? 2 c.281T>C - r.(?) p.(Leu94Pro)
+/? 2 c.301T>C - r.(?) p.(Cys101Arg)
+/? 2 c.301T>C - r.(?) p.(Cys101Arg)
+?/? 2 c.368T>G - r.(?) p.(Val123Gly)
+/? 2 c.407C>T - r.(?) p.(Ser136Phe)
+/? 2 c.430G>A - r.(?) p.(Gly144Ser)
+/? 2 c.430G>A - r.(?) p.(Gly144Ser)
+/? 2 c.431G>A - r.(?) p.(Gly144Asp)
+/? 2 c.431G>A - r.(?) p.(Gly144Asp)
+/? 2 c.431G>C - r.(?) p.(Gly144Ala)
+/? 2 c.436G>A - r.(?) p.(Gly146Ser)
?/? 2 c.437G>A - r.(?) p.(Gly146Asp)
?/? 2 c.437G>A - r.(?) p.(Gly146Asp)
?/? 2 c.437G>C - r.(?) p.(Gly146Ala)
+?/? 2 c.461G>A - r.(?) p.(Cys154Tyr)
+?/? 2 c.461G>T - r.(?) p.(Cys154Phe)
+?/. - c.476T>C likely pathogenic r.(?) p.(Phe159Ser)
+/? 2 c.487_492del - r.(?) p.(Phe163_Glu164del)
+/? 2 c.514G>A - r.(?) p.(Asp172Asn)
?/. 2 c.532G>A - r.(?) p.(Ala178Thr)
+/? 2 c.557C>T - r.(?) p.(Pro186Leu)
?/? 2 c.566G>T - r.(?) p.(Arg189Ile)
+/? 2 c.574A>G - r.(?) p.(Thr192Ala)
+/? 2 c.574A>G - r.(?) p.(Thr192Ala)
+/? 2 c.574A>G - r.(?) p.(Thr192Ala)
+/? 2 c.574A>G - r.(?) p.(Thr192Ala)
?/? 2 c.575C>T - r.(?) p.(Thr192Ile)
-?/. - c.597C>T likely benign r.(?) p.(=)
?/. - c.616G>A VUS r.(?) p.(Gly206Ser)
?/. - c.631A>C VUS r.(?) p.(Met211Leu)
+/? 2 c.644G>A - r.(?) p.(Gly215Asp)
+/? 2 c.644G>A - r.(?) p.(Gly215Asp)
+/? 2 c.644G>A - r.(?) p.(Gly215Asp)
+/? 2 c.646A>C - r.(?) p.(Asn216His)
+/? 2 c.650T>C - r.(?) p.(Leu217Pro)
+/. - c.652C>T pathogenic r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/? 2 c.652C>T - r.(?) p.(Arg218Trp)
+/. - c.652C>T pathogenic r.(?) p.(Arg218Trp)
+/? 2 c.653G>A - r.(?) p.(Arg218Gln)
+/? 2 c.653G>A - r.(?) p.(Arg218Gln)
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