Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G265E

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.G265E
c.794G>A
Surrounding Variants
1 paper
NM_001005242.3
p.G265R
c.793G>C
1 paper
NM_001005242.3
p.G265R
c.793G>A
7 papers
NM_001005242.3
p.A264V
c.791C>T
1 paper
NM_001005242.3
p.L266fs
c.796_797fs
1 paper
NM_001005242.3
p.T267P
c.799A>C
3 papers
NM_001005242.3
p.T263M
c.788C>T
1 paper
NM_001005242.3
p.T263K
c.788C>A
1 paper
NM_001005242.3
p.V268F
c.802G>T
1 paper
NM_001005242.3
p.V268D
c.803T>A
1 paper
NM_001005242.3
p.L262M
c.784C>A
4 papers
NM_001005242.3
p.G269R
c.805G>C
5 papers
NM_001005242.3
p.G269R
c.805G>A
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