Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S225F

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
2 papers
NM_001005242.3
p.S225F
c.674C>T
Surrounding Variants
2 papers
NM_001005242.3
p.G224V
c.671G>T
2 papers
NM_001005242.3
p.S227R
c.679A>C
2 papers
NM_001005242.3
p.S227R
c.681C>G
2 papers
NM_001005242.3
p.S227R
c.681C>A
1 paper
NM_001005242.3
p.D228Y
c.682G>T
2 papers
NM_001005242.3
p.D228N
c.682G>A
1 paper
NM_001005242.3
p.Y221Y
c.663C>T
12 papers
NM_001005242.3
p.Y221*
c.663C>G
14 papers
NM_001005242.3
p.Y221*
c.663C>A
1 paper
NM_001005242.3
p.Y221S
c.662A>C
1 paper
NM_001005242.3
p.V230I
c.688G>A
1 paper
NM_001005242.3
p.Q220R
c.659A>G
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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."