Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G327A

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.G327A
c.980G>C
Surrounding Variants
3 papers
NM_001005242.3
p.G327V
c.980G>T
2 papers
NM_001005242.3
p.G327E
c.980G>A
3 papers
NM_001005242.3
p.A324_G327delFs
c.971_980del10
1 paper
NM_001005242.3
p.G328*
c.982G>T
1 paper
NM_001005242.3
p.G328R
c.982G>C
1 paper
NM_001005242.3
p.G328R
c.982G>A
1 paper
NM_001005242.3
p.G328fs
c.982_983fs
1 paper
NM_001005242.3
p.G328V
c.983G>T
1 paper
NM_001005242.3
p.G328A
c.983G>C
1 paper
NM_001005242.3
p.A326G
c.977C>G
1 paper
NM_001005242.3
p.A326E
c.977C>A
1 paper
NM_001005242.3
p.A326S
c.976G>T
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