Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Y161H

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.Y161H
c.481T>C
Surrounding Variants
1 paper
NM_001005242.3
p.Y161C
c.482A>G
2 papers
NM_001005242.3
p.H160R
c.479A>G
2 papers
NM_001005242.3
p.H160Y
c.478C>T
1 paper
NM_001005242.3
p.T162A
c.484A>G
3 papers
NM_001005242.3
p.T162M
c.485C>T
1 paper
NM_001005242.3
p.R158_T162delFs
c.472_484del13
1 paper
NM_001005242.3
p.A159T
c.475G>A
1 paper
NM_001005242.3
p.H163N
c.487C>A
12 papers
NM_001005242.3
p.R158K
c.473G>A
2 papers
NM_001005242.3
p.S164R
c.490A>C
2 papers
NM_001005242.3
p.S164R
c.492C>G
2 papers
NM_001005242.3
p.S164R
c.492C>A
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