Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R79*

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
73 papers
NM_001005242.3
p.R79*
c.235C>T
Surrounding Variants
1 paper
NM_001005242.3
p.R79Q
c.236G>A
1 paper
NM_001005242.3
p.H78Y
c.232C>T
1 paper
NM_001005242.3
p.N76S
c.227A>G
1 paper
NM_001005242.3
p.N76fs
c.226_227fs
1 paper
NM_001005242.3
p.G75E
c.224G>A
1 paper
NM_001005242.3
p.V83F
c.247G>T
3 papers
NM_001005242.3
p.G75R
c.223G>C
4 papers
NM_001005242.3
p.G75R
c.223G>A
1 paper
NM_001005242.3
p.V83I
c.247G>A
1 paper
NM_001005242.3
p.V83A
c.248T>C
8 papers
NM_001005242.3
p.G75Splc
c.224-3C>G
2 papers
NM_001005242.3
p.P84S
c.250C>T
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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."