Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.D96E

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
4 papers
NM_001005242.3
p.D96E
c.288T>A
Surrounding Variants
4 papers
NM_001005242.3
p.D96E
c.288T>G
2 papers
NM_001005242.3
p.V98I
c.292G>A
1 paper
NM_001005242.3
p.V98A
c.293T>C
1 paper
NM_001005242.3
p.G99insFs
c.296_297insA
5 papers
NM_001005242.3
p.G100R
c.298G>C
1 paper
NM_001005242.3
p.G100S
c.298G>A
1 paper
NM_001005242.3
p.V93F
c.277G>T
1 paper
NM_001005242.3
p.G100D
c.299G>A
1 paper
NM_001005242.3
p.V93I
c.277G>A
1 paper
NM_001005242.3
p.L92F
c.276G>T
1 paper
NM_001005242.3
p.L92F
c.276G>C
1 paper
NM_001005242.3
p.G100G
c.300C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."