Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S249N

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
4 papers
NM_001005242.3
p.S249N
c.746G>A
Surrounding Variants
3 papers
NM_001005242.3
p.S249T
c.746G>C
1 paper
NM_001005242.3
p.P244_T248delFs
c.731_744del14
1 paper
NM_001005242.3
p.R250C
c.748C>T
1 paper
NM_001005242.3
p.R250L
c.749G>T
1 paper
NM_001005242.3
p.R250H
c.749G>A
1 paper
NM_001005242.3
p.T248S
c.743C>G
1 paper
NM_001005242.3
p.P246_T248insFs
c.738_742dup5
1 paper
NM_001005242.3
p.T248S
c.742A>T
1 paper
NM_001005242.3
p.G247E
c.740G>A
1 paper
NM_001005242.3
p.M252T
c.755T>C
1 paper
NM_001005242.3
p.P246L
c.737C>T
1 paper
NM_001005242.3
p.M252I
c.756G>T
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