Varaico: Literature-Extracted Genetic Variants

Gene:PKP4

PKP4

109 papers

RefSeq Summary

Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins ...

Pfam Domains

Armaa 559–599UCSCArmadillo/beta-catenin-like repeat
Armaa 559–599UCSCArmadillo/beta-catenin-like repeat
Armaa 603–644UCSCArmadillo/beta-catenin-like repeat
Armaa 603–644UCSCArmadillo/beta-catenin-like repeat
Armaa 863–901UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 4

HGNC Alias Symbol

p0071

Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
5 papers
NM_003628.6
p.D604G
c.1811A>G
5 papers
NM_003628.6
p.A707V
c.2120C>T
4 papers
NM_003628.6
p.R795K
c.2384G>A
3 papers
NM_003628.6
p.Y723C
c.2168A>G
2 papers
NM_003628.6
p.Q110R
c.329A>G
2 papers
NM_003628.6
p.K588R
c.1763A>G
2 papers
NM_003628.6
p.I627V
c.1879A>G
2 papers
NM_003628.6
p.I725I
c.2175C>T
2 papers
NM_003628.6
p.V743M
c.2227G>A
2 papers
NM_003628.6
p.T990I
c.2969C>T
2 papers
NM_003628.6
p.A1078G
c.3233C>G
1 paper
NM_003628.6
p.R18H
c.53G>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."