Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S29R

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.S29R
c.87C>G
Surrounding Variants
1 paper
NM_001005242.3
p.S29R
c.87C>A
1 paper
NM_001005242.3
p.L30V
c.88C>G
1 paper
NM_001005242.3
p.S29fs
c.85_86fs
1 paper
NM_001005242.3
p.S29R
c.85A>C
2 papers
NM_001005242.3
p.S28delFs
c.84delG
1 paper
NM_001005242.3
p.A31P
c.91G>C
1 paper
NM_001005242.3
p.A31T
c.91G>A
1 paper
NM_001005242.3
p.S28A
c.82T>G
1 paper
NM_001005242.3
p.A31E
c.92C>A
1 paper
NM_001005242.3
p.P33S
c.97C>T
1 paper
NM_001005242.3
p.D26G
c.77A>G
1 paper
NM_001005242.3
p.D26Y
c.76G>T
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