Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Q393*

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
5 papers
NM_001005242.3
p.Q393*
c.1177C>T
Surrounding Variants
1 paper
NM_001005242.3
p.N392K
c.1176C>G
1 paper
NM_001005242.3
p.L394P
c.1181T>C
1 paper
NM_001005242.3
p.L394H
c.1181T>A
1 paper
NM_001005242.3
p.V391fs
c.1171_1172fs
1 paper
NM_001005242.3
p.V391I
c.1171G>A
3 papers
NM_001005242.3
p.R395C
c.1183C>T
1 paper
NM_001005242.3
p.R395P
c.1184G>C
1 paper
NM_001005242.3
p.R395H
c.1184G>A
8 papers
NM_001005242.3
p.R390_V391Splc
c.1171-2A>G
2 papers
NM_001005242.3
p.G396D
c.1187G>A
2 papers
NM_001005242.3
p.I397N
c.1190T>A
1 paper
NM_001005242.3
p.R390_V391Splc
c.1171-11T>C
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