Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.M1L

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
1 paper
NM_001005337.3
p.M1L
c.1A>T
Surrounding Variants
1 paper
NM_001005337.3
p.S4S
c.12G>C
1 paper
NM_001005337.3
p.L6R
c.17T>G
1 paper
NM_001005337.3
p.S27*
c.80C>A
1 paper
NM_001005337.3
p.G34G
c.102C>T
2 papers
NM_001005337.3
p.V41M
c.121G>A
1 paper
NM_001005337.3
p.V41insFs
c.121_122insT
1 paper
NM_001005337.3
p.V49I
c.145G>A
4 papers
NM_001005337.3
p.G68Splc
c.202+1G>C
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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."