Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.G81R

PKP1

175 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 276–316UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 1

HGNC Alias Symbol

B6P

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001005337.3
p.G81R
c.241G>C
Surrounding Variants
3 papers
NM_001005337.3
p.G81R
c.241G>A
1 paper
NM_001005337.3
p.Y88C
c.263A>G
1 paper
NM_001005337.3
p.Y88F
c.263A>T
1 paper
NM_001005337.3
p.D72_G73insFs
c.216_217insG
1 paper
NM_001005337.3
p.Y89*
c.267C>A
1 paper
NM_001005337.3
p.Y89*
c.267C>G
15 papers
NM_001005337.3
p.Y71*
c.213T>A
15 papers
NM_001005337.3
p.Y71*
c.213T>G
10 papers
NM_001005337.3
p.G68Splc
c.203-1G>A
3 papers
NM_001005337.3
p.G68Splc
c.203-1G>T
1 paper
NM_001005337.3
p.G68delFs
c.203delG
1 paper
NM_001005337.3
p.A94E
c.281C>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."