Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.A325V

PKP2

765 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 384–424UCSCArmadillo/beta-catenin-like repeat
Armaa 426–467UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005242.3
p.A325V
c.974C>T
Surrounding Variants
1 paper
NM_001005242.3
p.V321_A324delFs
c.962_972del11
1 paper
NM_001005242.3
p.A325_A326insFs
c.975_976ins8
2 papers
NM_001005242.3
p.A325fs
c.973_974fs
2 papers
NM_001005242.3
p.A325fs
c.973_974fs
1 paper
NM_001005242.3
p.Q323_A325Fs
c.968_975delinsGCCTTTFs
1 paper
NM_001005242.3
p.A326S
c.976G>T
1 paper
NM_001005242.3
p.A324_A325insFs
c.972_973insT
3 papers
NM_001005242.3
p.A324insFs
c.971_972insCT
3 papers
NM_001005242.3
p.A324fs
c.970_971fs
7 papers
NM_001005242.3
p.A326T
c.976G>A
1 paper
NM_001005242.3
p.Q323_A324delFs
c.968_971del4
1 paper
NM_001005242.3
p.A324V
c.971C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."