Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.A285V

PKP2

765 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 384–424UCSCArmadillo/beta-catenin-like repeat
Armaa 426–467UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001005242.3
p.A285V
c.854C>T
Surrounding Variants
1 paper
NM_001005242.3
p.A285T
c.853G>A
1 paper
NM_001005242.3
p.S286F
c.857C>T
1 paper
NM_001005242.3
p.R284G
c.850A>G
1 paper
NM_001005242.3
p.R287fs
c.859_860fs
1 paper
NM_001005242.3
p.N283K
c.849C>G
1 paper
NM_001005242.3
p.N283_R284insFs
c.849_850insTG
1 paper
NM_001005242.3
p.N283K
c.849C>A
1 paper
NM_001005242.3
p.R287G
c.859A>G
1 paper
NM_001005242.3
p.R287R
c.861G>A
1 paper
NM_001005242.3
p.S288P
c.862T>C
1 paper
NM_001005242.3
p.R287delFs
c.861delC
1 paper
NM_001005242.3
p.Q282H
c.846G>T
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