Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.C446R

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.C446R
c.1336T>C
Surrounding Variants
1 paper
NM_001005337.3
p.R445H
c.1334G>A
1 paper
NM_001005337.3
p.R445C
c.1333C>T
1 paper
NM_001005337.3
p.D417E
c.1251T>A
1 paper
NM_001005337.3
p.D417E
c.1251T>G
1 paper
NM_001005337.3
p.L413L
c.1237C>T
3 papers
NM_001005337.3
p.R411Splc
c.1233-2A>G
7 papers
NM_001005337.3
p.R411Splc
c.1233-2A>T
1 paper
NM_000299.4
p.Q425*
c.1273C>T
1 paper
NM_000299.4
p.R411Splc
c.1233-2A>T
1 paper
NM_001005337.3
p.R411Splc
c.1232+84G>A
2 papers
NM_001005337.3
p.R411fs
c.1231_1232fs
1 paper
NM_001005337.3
p.C409_L410insAC
c.1225_1229ins6
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