Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.D540N

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.D540N
c.1618G>A
Surrounding Variants
1 paper
NM_001005242.3
p.G537A
c.1610G>C
6 papers
NM_004572.4
p.V587I
c.1759G>A
NM_001005242.3
p.V543I
c.1627G>A
1 paper
NM_001005242.3
p.H544insFs
c.1630_1631insTT
2 papers
NM_001005242.3
p.H544insFs
c.1631_1632insTT
1 paper
NM_004572.4
p.R573_M576del4
c.1717_1727del12
2 papers
NM_001005242.3
p.V546I
c.1636G>A
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.R577fs
c.1729_1730fs
1 paper
NM_001005242.3
p.R533insFs
c.1597dupA
1 paper
NM_001005242.3
p.R547G
c.1639A>G
1 paper
NM_001005242.3
p.R533G
c.1597A>G
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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."