Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G100D

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.G100D
c.299G>A
Surrounding Variants
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.G100G
c.300C>G
1 paper
NM_001005242.3
p.G99insFs
c.296_297insA
11 papers
NM_001005242.3
p.R101H
c.302G>A
1 paper
NM_001005242.3
p.S102P
c.304T>C
1 paper
NM_001005242.3
p.V98A
c.293T>C
2 papers
NM_001005242.3
p.V98I
c.292G>A
2 papers
NM_001005242.3
p.P103A
c.307C>G
4 papers
NM_001005242.3
p.P103T
c.307C>A
4 papers
NM_001005242.3
p.D96E
c.288T>G
4 papers
NM_001005242.3
p.D96E
c.288T>A
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