Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L262M

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.L262M
c.784C>A
Surrounding Variants
3 papers
NM_001005242.3
p.T263M
c.788C>T
1 paper
NM_001005242.3
p.T263K
c.788C>A
1 paper
NM_001005242.3
p.E259del1
c.775_776delCTC
7 papers
NM_001005242.3
p.A264V
c.791C>T
2 papers
NM_001005242.3
p.E259insFs
c.775_776insG
6 papers
NM_001005242.3
p.E259*
c.775G>T
1 paper
NM_001005242.3
p.G265R
c.793G>C
1 paper
NM_001005242.3
p.G265R
c.793G>A
3 papers
NM_001005242.3
p.E259fs
c.775_776fs
1 paper
NM_001005242.3
p.G265E
c.794G>A
3 papers
NM_001005242.3
p.K258*
c.772A>T
1 paper
NM_001005242.3
p.L266fs
c.796_797fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."