Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.S240R

PKP3

91 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 350–390UCSCArmadillo/beta-catenin-like repeat
Armaa 392–432UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007183.4
p.S240R
c.718A>C
Surrounding Variants
1 paper
NM_007183.4
p.S240R
c.720C>A
1 paper
NM_007183.4
p.S240R
c.720C>G
1 paper
NM_007183.4
p.E233E
c.699G>A
1 paper
NM_007183.4
p.A247P
c.739G>C
1 paper
NM_007183.4
p.R225Q
c.674G>A
1 paper
NM_007183.4
p.S223C
c.668C>G
1 paper
NM_007183.4
p.S223F
c.668C>T
1 paper
NM_007183.4
p.S220G
c.658A>G
1 paper
NM_001303029.2
p.G277A
c.830G>C
1 paper
NM_007183.4
p.R217C
c.649C>T
1 paper
NM_007183.4
p.A214E
c.641C>A
1 paper
NM_007183.4
p.R211S
c.633G>C
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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."