Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.H213Y

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.H213Y
c.637C>T
Surrounding Variants
1 paper
NM_001005242.3
p.R212R
c.636C>G
1 paper
NM_001005242.3
p.R212L
c.635G>T
1 paper
NM_001005242.3
p.R212H
c.635G>A
2 papers
NM_001005242.3
p.R212C
c.634C>T
1 paper
NM_001005242.3
p.D215N
c.643G>A
1 paper
NM_001005242.3
p.F214delFs
c.640_641delAA
7 papers
NM_001005242.3
p.Q211*
c.631C>T
1 paper
NM_001005242.3
p.R210K
c.629G>A
4 papers
NM_001005242.3
p.S209R
c.627C>G
4 papers
NM_001005242.3
p.S209R
c.627C>A
1 paper
NM_001005242.3
p.S209N
c.626G>A
4 papers
NM_001005242.3
p.S209R
c.625A>C
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