Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G269R

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
4 papers
NM_001005242.3
p.G269R
c.805G>C
Surrounding Variants
5 papers
NM_001005242.3
p.G269R
c.805G>A
1 paper
NM_001005242.3
p.G269A
c.806G>C
1 paper
NM_001005242.3
p.G269E
c.806G>A
1 paper
NM_001005242.3
p.V268D
c.803T>A
1 paper
NM_001005242.3
p.V268F
c.802G>T
4 papers
NM_001005242.3
p.Q270*
c.808C>T
2 papers
NM_001005242.3
p.V271L
c.811G>C
3 papers
NM_001005242.3
p.V271I
c.811G>A
1 paper
NM_001005242.3
p.T267P
c.799A>C
1 paper
NM_001005242.3
p.V271G
c.812T>G
1 paper
NM_001005242.3
p.L266fs
c.796_797fs
1 paper
NM_001005242.3
p.Q270_V271delFs
c.810_813del4
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."