PKP1 plakophilin 1

Canonical transcript: NM_000299

68 unique variant annotations were identified in 33 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-201252866-C-T c.36C>T p.Tyr12Tyr Synonymous 1/15 - 2
1-201252909-T-G c.79T>G p.Ser27Ala Missense 1/15 - 1
1-201252991-C-T c.161C>T p.Ser54Phe Missense 1/15 - 1
1-201253033-G-C c.202+1G>C - IntronicSNV - 1/14 1
1-201255199-T-A c.202+2167T>A - IntronicSNV - 1/14 1
1-201255199-T-C c.202+2167T>C - IntronicSNV - 1/14 1
1-201256771-G-A c.202+3739G>A - IntronicSNV - 1/14 2
1-201256771-G-T c.202+3739G>T - IntronicSNV - 1/14 2
1-201258519-A-C c.203-4551A>C - IntronicSNV - 1/14 1
1-201258519-A-G c.203-4551A>G - IntronicSNV - 1/14 1
1-201258519-A-T c.203-4551A>T - IntronicSNV - 1/14 1
1-201259981-G-A c.203-3089G>A - IntronicSNV - 1/14 1
1-201262432-C-G c.203-638C>G - IntronicSNV - 1/14 3
1-201262432-C-T c.203-638C>T - IntronicSNV - 1/14 3
1-201263069-G-A c.203-1G>A - IntronicSNV - 1/14 1
1-201263069-G-T c.203-1G>T - IntronicSNV - 1/14 1
1-201263080-T-A c.213T>A p.Tyr71* Nonsense 2/15 - 1
1-201263080-T-G c.213T>G p.Tyr71* Nonsense 2/15 - 1
1-201263108-G-A c.241G>A p.Gly81Arg Missense 2/15 - 1
1-201263150-G-A c.283G>A p.Gly95Arg Missense 2/15 - 1
1-201263150-G-C c.283G>C p.Gly95Arg Missense 2/15 - 1
1-201268034-G-A c.306+4861G>A - IntronicSNV - 2/14 1
1-201269313-A-G c.306+6140A>G - IntronicSNV - 2/14 1
1-201269687-C-G c.306+6514C>G - IntronicSNV - 2/14 1
1-201271222-C-A c.306+8049C>A - IntronicSNV - 2/14 1
1-201271222-C-T c.306+8049C>T - IntronicSNV - 2/14 1
1-201276627-G-A c.307-5667G>A - IntronicSNV - 2/14 1
1-201277691-G-T c.307-4603G>T - IntronicSNV - 2/14 1
1-201282505-GC-AG c.518_519delinsAG p.Gly173Glu Missense 3/15 - 1
1-201282549-AG-GT c.562_563delinsGT p.Ser188Val Missense 3/15 - 1
1-201282573-A-G c.586A>G p.Ile196Val Missense 3/15 - 1
1-201285721-C-T c.742C>T p.Pro248Ser Missense 4/15 - 1
1-201285759-A-C c.780A>C p.Lys260Asn Missense 4/15 - 1
1-201285759-A-G c.780A>G p.Lys260Lys Synonymous 4/15 - 1
1-201285776-C-A c.797C>A p.Ala266Asp Missense 4/15 - 1
1-201286318-G-A c.847-382G>A - IntronicSNV - 4/14 1
1-201286678-C-T c.847-22C>T - IntronicSNV - 4/14 1
1-201286763-C-T c.910C>T p.Gln304* Nonsense 5/15 - 3
1-201286832-AGG-TGT c.979_981delinsTGT p.Arg327Cys Missense 5/15 - 1
1-201288007-G-A c.1232+84G>A - IntronicSNV - 6/14 1
1-201288898-A-C c.1233-46A>C - IntronicSNV - 6/14 1
1-201288955-G-A c.1244G>A p.Gly415Asp Missense 7/15 - 1
1-201288982-C-A c.1271C>A p.Pro424Gln Missense 7/15 - 1
1-201288982-C-T c.1271C>T p.Pro424Leu Missense 7/15 - 1
1-201289498-T-C c.1399T>C p.Cys467Arg Missense 8/15 - 1
1-201289703-C-A c.1410+194C>A - IntronicSNV - 8/14 1
1-201290790-T-A c.1411-316T>A - IntronicSNV - 8/14 1
1-201291160-G-A c.1465G>A p.Glu489Lys Missense 9/15 - 1
1-201293985-G-A c.1898-84G>A - IntronicSNV - 11/14 1
1-201294418-C-A c.2084+163C>A - IntronicSNV - 12/14 1
1-201294418-C-G c.2084+163C>G - IntronicSNV - 12/14 1
1-201294418-C-T c.2084+163C>T - IntronicSNV - 12/14 1
1-201294893-A-T c.2096A>T p.Lys699Met Missense 13/15 - 1
1-201294910-C-T c.2113C>T p.Arg705Trp Missense 13/15 - 1
1-201294952-G-T c.2155G>T p.Gly719Cys Missense 13/15 - 1
1-201295107-C-T c.2169+141C>T - IntronicSNV - 13/14 1
1-201298156-G-A c.*192G>A - IntronicSNV 15/15 - 1
1-201298352-G-A c.*32+356G>A - IntronicSNV - 14/14 1
1-201299393-T-A c.*224T>A - 3_prime_UTR_variant 15/15 - 1
1-201299393-T-C c.*224T>C - 3_prime_UTR_variant 15/15 - 1
1-201299393-T-G c.*224T>G - 3_prime_UTR_variant 15/15 - 1
1-201301053-G-A c.*1884G>A - 3_prime_UTR_variant 15/15 - 2
1-201301111-A-C c.*1942A>C - 3_prime_UTR_variant 15/15 - 1
1-201301111-A-G c.*1942A>G - 3_prime_UTR_variant 15/15 - 1
1-201301111-A-T c.*1942A>T - 3_prime_UTR_variant 15/15 - 1
1-201301696-G-A c.*2527G>A - 3_prime_UTR_variant 15/15 - 1
1-201301873-A-G c.*2704A>G - 3_prime_UTR_variant 15/15 - 1
1-201301873-A-T c.*2704A>T - 3_prime_UTR_variant 15/15 - 1