Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.E198K

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
2 papers
NM_001005242.3
p.E198K
c.592G>A
Surrounding Variants
2 papers
NM_001005242.3
p.E198A
c.593A>C
1 paper
NM_001005242.3
p.R196insFs
c.587dupG
2 papers
NM_001005242.3
p.R196H
c.587G>A
1 paper
NM_001005242.3
p.V200M
c.598G>A
1 paper
NM_001005242.3
p.I199delFs
c.596_597delGA
2 papers
NM_001005242.3
p.R196C
c.586C>T
2 papers
NM_001005242.3
p.V200V
c.600G>A
1 paper
NM_001005242.3
p.Y194*
c.582T>G
1 paper
NM_001005242.3
p.Y194Y
c.582T>C
1 paper
NM_001005242.3
p.Y194*
c.582T>A
1 paper
NM_001005242.3
p.G201E
c.602G>A
1 paper
NM_001005242.3
p.V202fs
c.604_605fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."