Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.H291Q

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.H291Q
c.873T>A
Surrounding Variants
1 paper
NM_001005242.3
p.H291Q
c.873T>G
1 paper
NM_001005242.3
p.Q292*
c.874C>T
2 papers
NM_001005242.3
p.W290*
c.870G>A
2 papers
NM_001005242.3
p.W290*
c.869G>A
1 paper
NM_001005242.3
p.S293G
c.877A>G
1 paper
NM_001005242.3
p.S293T
c.878G>C
1 paper
NM_001005242.3
p.S294P
c.880T>C
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.R287R
c.861G>A
1 paper
NM_001005242.3
p.H296_S297insA
c.886_890ins3
1 paper
NM_001005242.3
p.H296N
c.886C>A
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