Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.R411Splc

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.R411Splc
c.1232+84G>A
Surrounding Variants
2 papers
NM_001005337.3
p.R411fs
c.1231_1232fs
1 paper
NM_001005337.3
p.C409_L410insAC
c.1225_1229ins6
1 paper
NM_001005337.3
p.N405delFs
c.1213delA
1 paper
NM_001005337.3
p.N392K
c.1176C>G
2 papers
NM_001005337.3
p.R378insFs
c.1132_1133insA
1 paper
NM_001005337.3
p.D377N
c.1129G>A
1 paper
NM_001005337.3
p.L357L
c.1071G>A
1 paper
NM_001005337.3
p.N356delFs
c.1067_1068delAC
1 paper
NM_001005337.3
p.L354P
c.1061T>C
1 paper
NM_000299.4
p.R411Splc
c.1233-2A>T
1 paper
NM_000299.4
p.Q425*
c.1273C>T
2 papers
NM_001005337.3
p.G352Splc
c.1054+1G>A
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