Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.E120*

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.E120*
c.358G>T
Surrounding Variants
1 paper
NM_001005242.3
p.Y119insFs
c.356dupA
2 papers
NM_001005242.3
p.Y119*
c.357T>G
2 papers
NM_001005242.3
p.Y119*
c.357T>A
1 paper
NM_001005242.3
p.E120A
c.359A>C
7 papers
NM_001005242.3
p.T118delFs
c.354delA
1 paper
NM_001005242.3
p.Y119fs
c.355_356fs
1 paper
NM_001005242.3
p.T118I
c.353C>T
1 paper
NM_001005242.3
p.R122C
c.364C>T
1 paper
NM_001005242.3
p.T118_Y119insGCA
c.352_356ins9
1 paper
NM_001005242.3
p.R122L
c.365G>T
1 paper
NM_001005242.3
p.R122H
c.365G>A
1 paper
NM_001005242.3
p.A117T
c.349G>A
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