Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G314E

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.G314E
c.941G>A
Surrounding Variants
3 papers
NM_001005242.3
p.G314R
c.940G>C
3 papers
NM_001005242.3
p.G314R
c.940G>A
1 paper
NM_001005242.3
p.S313delFs
c.938delC
1 paper
NM_001005242.3
p.S313N
c.938G>A
1 paper
NM_001005242.3
p.S313fs
c.937_938fs
1 paper
NM_001005242.3
p.A309_S312delFs
c.925_935del11
1 paper
NM_001005242.3
p.S312A
c.934T>G
1 paper
NM_001005242.3
p.S312P
c.934T>C
3 papers
NM_001005242.3
p.A317V
c.950C>T
1 paper
NM_001005242.3
p.A317E
c.950C>A
1 paper
NM_001005242.3
p.R316_A317delFs
c.948_949delCT
1 paper
NM_001005242.3
p.D311H
c.931G>C
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."