Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.H180Q

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.H180Q
c.540C>A
Surrounding Variants
1 paper
NM_001005242.3
p.H180Q
c.540C>G
1 paper
NM_001005242.3
p.Q181E
c.541C>G
1 paper
NM_001005242.3
p.Q181P
c.542A>C
2 papers
NM_001005242.3
p.H179R
c.536A>G
1 paper
NM_001005242.3
p.E182fs
c.544_545fs
1 paper
NM_001005242.3
p.H179fs
c.535_536fs
2 papers
NM_001005242.3
p.E182delFs
c.544delC
2 papers
NM_001005242.3
p.L178insFs
c.533dupT
2 papers
NM_001005242.3
p.L178_H179insFs
c.534_535insCT
1 paper
NM_001005242.3
p.E182D
c.546A>T
1 paper
NM_001005242.3
p.L178P
c.533T>C
14 papers
NM_001005242.3
p.S183N
c.548G>A
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