Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G330E

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.G330E
c.989G>A
Surrounding Variants
1 paper
NM_001005242.3
p.G330R
c.988G>A
4 papers
NM_001005242.3
p.S329delFs
c.987delA
1 paper
NM_001005242.3
p.S329fs
c.985_986fs
2 papers
NM_001005242.3
p.S329R
c.987T>G
2 papers
NM_001005242.3
p.S329R
c.987T>A
3 papers
NM_001005242.3
p.S329fs
c.985_986fs
1 paper
NM_001005242.3
p.S329C
c.985A>T
1 paper
NM_001005242.3
p.S329G
c.985A>G
2 papers
NM_001005242.3
p.S329R
c.985A>C
2 papers
NM_001005242.3
p.G328insFs
c.983_984insGG
1 paper
NM_001005242.3
p.G328delFs
c.983delC
1 paper
NM_001005242.3
p.G328V
c.983G>T
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