Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S135S

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.S135S
c.405C>T
Surrounding Variants
2 papers
NM_001005242.3
p.V136L
c.406G>T
2 papers
NM_001005242.3
p.V136L
c.406G>C
1 paper
NM_001005242.3
p.V136M
c.406G>A
1 paper
NM_001005242.3
p.S135F
c.404C>T
1 paper
NM_001005242.3
p.V136A
c.407T>C
4 papers
NM_001005242.3
p.E137K
c.409G>A
1 paper
NM_001005242.3
p.K134T
c.401A>C
1 paper
NM_001005242.3
p.K134E
c.400A>G
24 papers
NM_001005242.3
p.Q133*
c.397C>T
2 papers
NM_001005242.3
p.E138D
c.414A>T
1 paper
NM_001005242.3
p.E138E
c.414A>G
2 papers
NM_001005242.3
p.E138D
c.414A>C
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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."