Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R66delFs

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.R66delFs
c.198delC
Surrounding Variants
2 papers
NM_001005242.3
p.G68S
c.202G>A
1 paper
NM_001005242.3
p.A65V
c.194C>T
3 papers
NM_001005242.3
p.A65S
c.193G>T
1 paper
NM_001005242.3
p.R69L
c.206G>T
1 paper
NM_001005242.3
p.L64insFs
c.190dupC
1 paper
NM_001005242.3
p.L64P
c.191T>C
1 paper
NM_001005242.3
p.S70G
c.208A>G
21 papers
NM_001005242.3
p.S70I
c.209G>T
1 paper
NM_001005242.3
p.S70T
c.209G>C
1 paper
NM_001005242.3
p.T63P
c.187A>C
1 paper
NM_001005242.3
p.T63insFs
c.187_188insC
1 paper
NM_001005242.3
p.S71F
c.212C>T
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