Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.L296delFs

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
6 papers
NM_001005337.3
p.L296delFs
c.888delC
Surrounding Variants
2 papers
NM_001005337.3
p.R297fs
c.889_890fs
1 paper
NM_001005337.3
p.L295V
c.883C>G
1 paper
NM_001005337.3
p.D294Y
c.880G>T
2 papers
NM_001005337.3
p.N300fs
c.898_899fs
4 papers
NM_001005337.3
p.N300T
c.899A>C
1 paper
NM_001005337.3
p.N302Y
c.904A>T
15 papers
NM_001005337.3
p.Q304*
c.910C>T
1 paper
NM_001005337.3
p.G287R
c.859G>A
1 paper
NM_001005337.3
p.G287R
c.859G>C
1 paper
NM_001005337.3
p.A306T
c.916G>A
1 paper
NM_001005337.3
p.A306A
c.918C>T
1 paper
NM_001005337.3
p.G309A
c.926G>C
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