Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S43C

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.S43C
c.127A>T
Surrounding Variants
1 paper
NM_001005242.3
p.S43N
c.128G>A
2 papers
NM_001005242.3
p.G42E
c.125G>A
2 papers
NM_001005242.3
p.S44N
c.131G>A
1 paper
NM_001005242.3
p.L40_A41delFs
c.119_122del4
3 papers
NM_001005242.3
p.A41G
c.122C>G
1 paper
NM_001005242.3
p.A41T
c.121G>A
1 paper
NM_001005242.3
p.G45D
c.134G>A
1 paper
NM_001005242.3
p.G45G
c.135C>G
1 paper
NM_001005242.3
p.R46C
c.136C>T
1 paper
NM_001005242.3
p.L40ins1
c.118_119insGCA
1 paper
NM_001005242.3
p.R46S
c.136C>A
1 paper
NM_001005242.3
p.R46H
c.137G>A
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