Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R533G

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.R533G
c.1597A>G
Surrounding Variants
1 paper
NM_004572.4
p.A575_M576insFs
c.1725_1728dup4
1 paper
NM_004572.4
p.R577fs
c.1729_1730fs
1 paper
NM_001005242.3
p.R533insFs
c.1597dupA
1 paper
NM_004572.4
p.R577fs
c.1729_1730fs
1 paper
NM_001005242.3
p.R534*
c.1600A>T
2 papers
NM_001005242.3
p.R534_C535insCT
c.1600_1604ins6
1 paper
NM_004572.4
p.R573_M576del4
c.1717_1727del12
1 paper
NM_001005242.3
p.A531V
c.1592C>T
1 paper
NM_001005242.3
p.K530I
c.1589A>T
1 paper
NM_001005242.3
p.K530E
c.1588A>G
1 paper
NM_001005242.3
p.G537A
c.1610G>C
1 paper
NM_001005242.3
p.G528G
c.1584G>A
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."