Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G206S

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.G206S
c.616G>A
Surrounding Variants
1 paper
NM_001005242.3
p.A205T
c.613G>A
1 paper
NM_001005242.3
p.T207S
c.619A>T
1 paper
NM_001005242.3
p.T207S
c.620C>G
3 papers
NM_001005242.3
p.R204H
c.611G>A
3 papers
NM_001005242.3
p.R204C
c.610C>T
1 paper
NM_001005242.3
p.T208fs
c.622_623fs
2 papers
NM_001005242.3
p.T208delFs
c.623delG
4 papers
NM_001005242.3
p.S209R
c.625A>C
1 paper
NM_001005242.3
p.S209N
c.626G>A
2 papers
NM_001005242.3
p.V202insFs
c.605_606insG
1 paper
NM_001005242.3
p.V202A
c.605T>C
1 paper
NM_001005242.3
p.V202delFs
c.604delC
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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."