Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.G612Splc

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.G612Splc
c.1835-1G>C
Surrounding Variants
7 papers
NM_001005337.3
p.G612Splc
c.1835-2A>G
1 paper
NM_001005337.3
p.Q614delFs
c.1841delA
1 paper
NM_001005337.3
p.E618delFs
c.1852delG
1 paper
NM_001005337.3
p.E618fs
c.1852_1853fs
1 paper
NM_001005337.3
p.L622P
c.1865T>C
1 paper
NM_001005337.3
p.T624N
c.1871C>A
1 paper
NM_001005337.3
p.S639delFs
c.1915delT
1 paper
NM_001005337.3
p.Y642H
c.1924T>C
1 paper
NM_001005337.3
p.G612Splc
c.1835-99C>T
1 paper
NM_001005337.3
p.L664F
c.1990C>T
4 papers
NM_001005337.3
p.R672*
c.2014C>T
7 papers
NM_001005337.3
p.S674Splc
c.2021+1G>A
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