Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Y217delFs

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.Y217delFs
c.649_650delTA
Surrounding Variants
2 papers
NM_001005242.3
p.T216_Y217delFs
c.648_651del4
1 paper
NM_001005242.3
p.R219K
c.656G>A
4 papers
NM_001005242.3
p.Q220*
c.658C>T
1 paper
NM_001005242.3
p.D215N
c.643G>A
1 paper
NM_001005242.3
p.F214delFs
c.640_641delAA
1 paper
NM_001005242.3
p.Q220R
c.659A>G
1 paper
NM_001005242.3
p.Y221S
c.662A>C
1 paper
NM_001005242.3
p.Y221Y
c.663C>T
12 papers
NM_001005242.3
p.Y221*
c.663C>G
14 papers
NM_001005242.3
p.Y221*
c.663C>A
1 paper
NM_001005242.3
p.H213Y
c.637C>T
1 paper
NM_001005242.3
p.R212R
c.636C>G
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