Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R547G

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.R547G
c.1639A>G
Surrounding Variants
1 paper
NM_001005242.3
p.G548*
c.1642G>T
2 papers
NM_001005242.3
p.V546I
c.1636G>A
11 papers
NM_001005242.3
p.G548fs
c.1642_1643fs
1 paper
NM_001005242.3
p.G548V
c.1643G>T
2 papers
NM_001005242.3
p.G548fs
c.1642_1643fs
29 papers
NM_001005242.3
p.G548delFs
c.1643delC
2 papers
NM_001005242.3
p.H544insFs
c.1631_1632insTT
1 paper
NM_001005242.3
p.H544insFs
c.1630_1631insTT
1 paper
NM_001005242.3
p.I550V
c.1648A>G
1 paper
NM_004572.4
p.I594T
c.1781T>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.A551T
c.1651G>A
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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."