Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.H296_S297insA

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.H296_S297insA
c.886_890ins3
Surrounding Variants
1 paper
NM_001005242.3
p.H296N
c.886C>A
1 paper
NM_001005242.3
p.H296P
c.887A>C
1 paper
NM_001005242.3
p.S297C
c.889A>T
1 paper
NM_001005242.3
p.H296delFs
c.888delG
1 paper
NM_001005242.3
p.S294P
c.880T>C
1 paper
NM_001005242.3
p.T298N
c.893C>A
1 paper
NM_001005242.3
p.S293T
c.878G>C
7 papers
NM_001005242.3
p.R299C
c.895C>T
1 paper
NM_001005242.3
p.R299G
c.895C>G
1 paper
NM_001005242.3
p.S293G
c.877A>G
3 papers
NM_001005242.3
p.R299L
c.896G>T
2 papers
NM_001005242.3
p.R299H
c.896G>A
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