Transcript #00001012 (NM_004572.3, PKP2 gene)

Transcript name transcript variant 2b
Gene name PKP2 (plakophilin 2)
Chromosome 12
Transcript - NCBI ID NM_004572.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004563.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

931 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
?/? 1 c.-22C>G r.(?) p.(=) -
-/. - c.-15G>T r.(?) p.(=) -
-/. - c.-7C>T r.(?) p.(=) -
?/? 1 c.-5G>T r.(?) p.(=) -
+/. _1_14_ c.0 r.0 p.0 -
?/? 3 c.1029G>Y r.(?) p.(Gln343His) -
+/? 11 c.2166G>Y r.(?) p.(Gln722His) Armadillo 6
+?/? 2 c.336G>Y r.(?) p.(Lys112Asn) N-terminus
+/+ 3 c.954_(delins)? r.(?) p.(His318Trpfs*10?) N-terminus
?/? 1i c.1-?_542+?del r.0 p.0 -
-?/. - c.12C>T r.(?) p.(Pro4=) -
?/. - c.12C>T r.(?) p.(Pro4=) -
?/. - c.14G>A r.(?) p.(Gly5Asp) -
?/. - c.14G>A r.(?) p.(Gly5Asp) -
-?/. - c.19C>T r.(?) p.(Pro7Ser) -
-?/. - c.45C>T r.(?) p.(Thr15=) -
?/? 1 c.45C>T r.(?) p.(=) N-terminus
+/+ 1 c.55C>T r.(?) p.(Gln19*) N-terminus
?/. - c.68G>A r.(?) p.(Gly23Glu) -
-?/. 1 c.76G>A r.(?) p.(Asp26Asn) -
-/. - c.76G>A r.(?) p.(Asp26Asn) -
-?/. - c.76G>A r.(?) p.(Asp26Asn) -
+/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus
-/. - c.76G>A r.(?) p.(Asp26Asn) -
-/. - c.76G>A r.(?) p.(Asp26Asn) -
?/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus
?/. 1 c.76G>A r.(?) p.(Asp26Asn) -
-/. - c.76G>A r.(?) p.(Asp26Asn) -
?/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus
-/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus
-/. - c.76G>A r.(?) p.(Asp26Asn) -
?/? 1 c.84del r.(?) p.(Ser29Alafs*10) -
-?/. - c.96G>A r.(?) p.(Leu32=) -
?/. 1 c.101C>A r.(?) p.(Ser34Tyr) -
-?/. - c.134G>A r.(?) p.(Gly45Asp) -
-?/. - c.138C>T r.(?) p.(Arg46=) -
-?/. - c.148A>G r.(?) p.(Thr50Ala) -
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus
+/. - c.148_151del r.(?) p.(Thr50Serfs*61) -
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus
+/. - c.148_151del r.(?) p.(Thr50Serfs*61) -
+/. - c.148_151del r.(?) p.(Thr50Serfs*61) -
+/. - c.148_151del r.(?) p.(Thr50Serfs*61) -
+/. 1 c.148_151del r.(?) p.(Thr50Serfs*61) -
+/. - c.148_151del r.(?) p.(Thr50SerfsTer61) -
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus
+/. 1 c.148_151del r.(?) p.(Thr50Serfs*61) -
+?/? 1 c.156G>A r.(?) p.(=) N-terminus
-/. - c.156G>A r.(?) p.(Lys52=) -
+?/? 1 c.156G>A r.(?) p.(=) N-terminus
?/. - c.158G>T r.(?) p.(Ser53Ile) -
-?/. - c.165G>T r.(?) p.(Arg55=) -
-/. - c.165G>T r.(?) p.(Arg55=) -
?/? 1 c.165G>T r.(?) p.(=) N-terminus
-?/. - c.168C>T r.(?) p.(Ile56=) -
?/? 1 c.174G>T r.(?) p.(Glu58Asn) -
?/. 1 c.174G>T r.(?) p.(Glu58Asp) -
-/- 1 c.174G>T r.(?) p.(Glu58Asp) N-terminus
-?/. - c.174G>T r.(?) p.(Glu58Asp) -
?/- 1 c.174G>T r.(?) p.(Glu58Asp) N-terminus
-/. - c.174G>T r.(?) p.(Glu58Asp) -
-/. - c.174G>T r.(?) p.(Glu58Asp) -
-?/. - c.174G>T r.(?) p.(Glu58Asp) -
-?/. - c.174G>T r.(?) p.(Glu58Asp) -
-/- 1 c.174G>T r.(?) p.(Glu58Asp) N-terminus
-/. - c.174G>T r.(?) p.(Glu58Asp) -
?/? 1 c.175C>T r.(?) p.(Gln59*) -
+/? 1 c.176A>T r.(?) p.(Gln59Leu) N-terminus
+?/? 1 c.184C>A r.(?) p.(Gln62Lys) N-terminus
?/. - c.184C>A r.(?) p.(Gln62Lys) -
?/. - c.184C>A r.(?) p.(Gln62Lys) -
+/. - c.184C>A r.(?) p.(Gln62Lys) -
?/. - c.184C>A r.(?) p.(Gln62Lys) -
?/. - c.184C>A r.(?) p.(Gln62Lys) -
?/? 1 c.184C>A r.(?) p.(Gln62Lys) N-terminus
?/. - c.184C>A r.(?) p.(Gln62Lys) -
?/? 1 c.184C>A r.(?) p.(Gln62Lys) N-terminus
?/? 1 c.184C>A r.(?) p.(Gln62Lys) N-terminus
?/. - c.184C>A r.(?) p.(Gln62Lys) -
+?/. 1 c.184C>A r.(?) p.(Gln62Lys) -
+/+ 1 c.184_185del r.(?) p.(Gln62Aspfs*23) N-terminus
?/? 1 c.190dup r.(?) p.(Leu64Profs*22) -
?/? 1 c.193G>T r.(?) p.(Ala65Ser) -
-?/. - c.195C>T r.(?) p.(Ala65=) -
?/? 1 c.195C>T r.(?) p.(Ala65=) -
-/. - c.195C>T r.(?) p.(Ala65=) -
-/. - c.209G>T r.(?) p.(Ser70Ile) -
-/. - c.209G>T r.(?) p.(Ser70Ile) -
-/. - c.209G>T r.(?) p.(Ser70Ile) -
-/. - c.209G>T r.(?) p.(Ser70Ile) -
-/- 1 c.209G>T r.(?) p.(Ser70Ile) N-terminus
-/. - c.209G>T r.(?) p.(Ser70Ile) -
?/? 1 c.214G>T r.(?) p.(Val72Leu) -
?/. - c.214G>T r.(?) p.(Val72Leu) -
+/. - c.215del r.(?) p.(Val72Glyfs*40) -
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