Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Y119_R122del4

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
1 paper
NM_001005242.3
p.Y119_R122del4
c.355_365del12
Surrounding Variants
1 paper
NM_001005242.3
p.W123L
c.368G>T
2 papers
NM_001005242.3
p.W123S
c.368G>C
13 papers
NM_001005242.3
p.W123*
c.368G>A
14 papers
NM_001005242.3
p.W123*
c.369G>A
1 paper
NM_001005242.3
p.R122L
c.365G>T
1 paper
NM_001005242.3
p.R122H
c.365G>A
1 paper
NM_001005242.3
p.R122C
c.364C>T
1 paper
NM_001005242.3
p.G124G
c.372A>T
1 paper
NM_001005242.3
p.R125K
c.374G>A
1 paper
NM_001005242.3
p.E120A
c.359A>C
3 papers
NM_001005242.3
p.E120*
c.358G>T
1 paper
NM_001005242.3
p.Y119insFs
c.356dupA
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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."