Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.K258*

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
3 papers
NM_001005242.3
p.K258*
c.772A>T
Surrounding Variants
3 papers
NM_001005242.3
p.G253_L256del4
c.757_767del12
6 papers
NM_001005242.3
p.E259*
c.775G>T
3 papers
NM_001005242.3
p.E259fs
c.775_776fs
2 papers
NM_001005242.3
p.E259insFs
c.775_776insG
1 paper
NM_001005242.3
p.L256S
c.767T>C
1 paper
NM_001005242.3
p.E259del1
c.775_776delCTC
2 papers
NM_001005242.3
p.L255H
c.764T>A
1 paper
NM_001005242.3
p.N254S
c.761A>G
1 paper
NM_001005242.3
p.N254T
c.761A>C
1 paper
NM_001005242.3
p.L262M
c.784C>A
1 paper
NM_001005242.3
p.G253D
c.758G>A
1 paper
NM_001005242.3
p.M252I
c.756G>T
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