Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Y86*

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.Y86*
c.258T>G
Surrounding Variants
4 papers
NM_001005242.3
p.Y86*
c.258T>A
7 papers
NM_001005242.3
p.V87L
c.259G>C
1 paper
NM_001005242.3
p.Y86C
c.257A>G
11 papers
NM_001005242.3
p.E85_Y86delFs
c.253_256del4
1 paper
NM_001005242.3
p.V87A
c.260T>C
1 paper
NM_001005242.3
p.E85D
c.255G>T
1 paper
NM_001005242.3
p.E85fs
c.253_254fs
1 paper
NM_001005242.3
p.E85D
c.255G>C
4 papers
NM_001005242.3
p.E85fs
c.253_254fs
1 paper
NM_001005242.3
p.P84L
c.251C>T
1 paper
NM_001005242.3
p.N89Y
c.265A>T
1 paper
NM_001005242.3
p.N89H
c.265A>C
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