Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S368C

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.S368C
c.1103C>G
Surrounding Variants
1 paper
NM_001005242.3
p.P367insFs
c.1101dupA
1 paper
NM_001005242.3
p.S368fs
c.1102_1103fs
2 papers
NM_001005242.3
p.R369K
c.1106G>A
1 paper
NM_001005242.3
p.R369R
c.1107G>A
22 papers
NM_001005242.3
p.L366P
c.1097T>C
2 papers
NM_001005242.3
p.M365I
c.1095G>T
2 papers
NM_001005242.3
p.M365I
c.1095G>C
2 papers
NM_001005242.3
p.M365I
c.1095G>A
13 papers
NM_001005242.3
p.M365V
c.1093A>G
13 papers
NM_001005242.3
p.A372P
c.1114G>C
4 papers
NM_001005242.3
p.A372T
c.1114G>A
1 paper
NM_001005242.3
p.H364L
c.1091A>T
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