Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.N283K

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
1 paper
NM_001005242.3
p.N283K
c.849C>G
Surrounding Variants
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.R284G
c.850A>G
1 paper
NM_001005242.3
p.Q282H
c.846G>T
1 paper
NM_001005242.3
p.Q282H
c.846G>C
1 paper
NM_001005242.3
p.A285T
c.853G>A
2 papers
NM_001005242.3
p.A285V
c.854C>T
1 paper
NM_001005242.3
p.T281delFs
c.841delT
1 paper
NM_001005242.3
p.T281fs
c.841_842fs
1 paper
NM_001005242.3
p.S286F
c.857C>T
1 paper
NM_001005242.3
p.V280fs
c.838_839fs
4 papers
NM_001005242.3
p.P279_V280delFs
c.837_838delCG
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