Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L255H

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.L255H
c.764T>A
Surrounding Variants
1 paper
NM_001005242.3
p.L256S
c.767T>C
1 paper
NM_001005242.3
p.N254S
c.761A>G
1 paper
NM_001005242.3
p.N254T
c.761A>C
1 paper
NM_001005242.3
p.G253D
c.758G>A
3 papers
NM_001005242.3
p.G253_L256del4
c.757_767del12
1 paper
NM_001005242.3
p.M252I
c.756G>T
1 paper
NM_001005242.3
p.M252I
c.756G>C
1 paper
NM_001005242.3
p.M252I
c.756G>A
3 papers
NM_001005242.3
p.K258*
c.772A>T
1 paper
NM_001005242.3
p.M252T
c.755T>C
6 papers
NM_001005242.3
p.E259*
c.775G>T
3 papers
NM_001005242.3
p.E259fs
c.775_776fs
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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."