Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Q62K

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
35 papers
NM_001005242.3
p.Q62K
c.184C>A
Surrounding Variants
1 paper
NM_001005242.3
p.Q62*
c.184C>T
1 paper
NM_001005242.3
p.Q62R
c.185A>G
1 paper
NM_001005242.3
p.Q61*
c.181C>T
1 paper
NM_001005242.3
p.T63P
c.187A>C
1 paper
NM_001005242.3
p.T63insFs
c.187_188insC
2 papers
NM_001005242.3
p.V60V
c.180G>A
1 paper
NM_001005242.3
p.L64insFs
c.190dupC
1 paper
NM_001005242.3
p.L64P
c.191T>C
14 papers
NM_001005242.3
p.Q59L
c.176A>T
1 paper
NM_001005242.3
p.Q59R
c.176A>G
3 papers
NM_001005242.3
p.A65S
c.193G>T
4 papers
NM_001005242.3
p.Q59*
c.175C>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."