Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S183del1

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.S183del1
c.547_548delGCT
Surrounding Variants
1 paper
NM_001005242.3
p.R185W
c.553C>T
1 paper
NM_001005242.3
p.R185Q
c.554G>A
14 papers
NM_001005242.3
p.S183N
c.548G>A
1 paper
NM_001005242.3
p.A186T
c.556G>A
1 paper
NM_001005242.3
p.E182D
c.546A>T
1 paper
NM_001005242.3
p.A187_L188insC
c.559_563ins3
1 paper
NM_001005242.3
p.A187T
c.559G>A
2 papers
NM_001005242.3
p.E182delFs
c.544delC
1 paper
NM_001005242.3
p.E182fs
c.544_545fs
1 paper
NM_001005242.3
p.L188F
c.562C>T
1 paper
NM_001005242.3
p.L188V
c.562C>G
1 paper
NM_001005242.3
p.Q181P
c.542A>C
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