Varaico: Literature-Extracted Genetic Variants

Gene:PKP3

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
1–12 of 98 variants
5 papers
NM_007183.4
p.R277P
c.830G>C
3 papers
NM_007183.4
p.R746*
c.2236C>T
2 papers
NM_007183.4
p.P188T
c.562C>A
2 papers
NM_007183.4
p.H306_R307ins0
c.917_919dupACC
2 papers
NM_007183.4
p.S323_V325del0
c.969_974del6
2 papers
NM_007183.4
p.N477K
c.1431C>A
2 papers
NM_007183.4
p.N477K
c.1431C>G
2 papers
NM_007183.4
p.S523N
c.1568G>A
2 papers
NM_007183.4
p.R673C
c.2017C>T
2 papers
NM_007183.4
p.A786V
c.2357C>T
1 paper
NM_007183.4
p.L8L
c.22C>T
1 paper
NM_007183.4
p.S9L
c.26C>T
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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."