Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G396D

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
2 papers
NM_001005242.3
p.G396D
c.1187G>A
Surrounding Variants
2 papers
NM_001005242.3
p.I397N
c.1190T>A
1 paper
NM_001005242.3
p.R395P
c.1184G>C
1 paper
NM_001005242.3
p.R395H
c.1184G>A
3 papers
NM_001005242.3
p.R395C
c.1183C>T
1 paper
NM_001005242.3
p.L394P
c.1181T>C
1 paper
NM_001005242.3
p.L394H
c.1181T>A
1 paper
NM_001005242.3
p.K399R
c.1196A>G
5 papers
NM_001005242.3
p.Q393*
c.1177C>T
1 paper
NM_001005242.3
p.N392K
c.1176C>G
1 paper
NM_001005242.3
p.L400H
c.1199T>A
1 paper
NM_001005242.3
p.L401M
c.1201C>A
1 paper
NM_001005242.3
p.L401Q
c.1202T>A
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