Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.T351T

PKP1

175 papers

RefSeq Summary

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate...

Pfam Domains

Armaa 276–316UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 1

HGNC Alias Symbol

B6P

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001005337.3
p.T351T
c.1053T>A
Surrounding Variants
2 papers
NM_001005337.3
p.G352Splc
c.1054+1G>A
4 papers
NM_001005337.3
p.G352Splc
c.1054+1G>T
1 paper
NM_001005337.3
p.R340S
c.1020A>C
1 paper
NM_001005337.3
p.R340S
c.1020A>T
1 paper
NM_001005337.3
p.R340K
c.1019G>A
1 paper
NM_001005337.3
p.R327R
c.981G>A
1 paper
NM_001005337.3
p.L323_T325del0
c.969_974del6
1 paper
NM_001005337.3
p.R312H
c.935G>A
1 paper
NM_001005337.3
p.R312C
c.934C>T
1 paper
NM_001005337.3
p.G309A
c.926G>C
1 paper
NM_001005337.3
p.A306A
c.918C>T
1 paper
NM_001005337.3
p.A306T
c.916G>A
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