Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.V202fs

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.V202fs
c.604_605fs
Surrounding Variants
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
1 paper
NM_001005242.3
p.G201E
c.602G>A
2 papers
NM_001005242.3
p.V200V
c.600G>A
1 paper
NM_001005242.3
p.V200M
c.598G>A
1 paper
NM_001005242.3
p.I199delFs
c.596_597delGA
3 papers
NM_001005242.3
p.R204C
c.610C>T
3 papers
NM_001005242.3
p.R204H
c.611G>A
1 paper
NM_001005242.3
p.A205T
c.613G>A
2 papers
NM_001005242.3
p.E198A
c.593A>C
2 papers
NM_001005242.3
p.E198K
c.592G>A
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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."