Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Q57*

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.Q57*
c.169C>T
Surrounding Variants
1 paper
NM_001005242.3
p.E58K
c.172G>A
3 papers
NM_001005242.3
p.G48_R55delFs
c.144_165del22
1 paper
NM_001005242.3
p.E58G
c.173A>G
14 papers
NM_001005242.3
p.E58D
c.174G>T
13 papers
NM_001005242.3
p.E58D
c.174G>C
4 papers
NM_001005242.3
p.Q59*
c.175C>T
1 paper
NM_001005242.3
p.Q59E
c.175C>G
14 papers
NM_001005242.3
p.Q59L
c.176A>T
1 paper
NM_001005242.3
p.Q59R
c.176A>G
2 papers
NM_001005242.3
p.S53R
c.159C>G
2 papers
NM_001005242.3
p.S53R
c.159C>A
2 papers
NM_001005242.3
p.V60V
c.180G>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."