Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.D165N

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.D165N
c.493G>A
Surrounding Variants
2 papers
NM_001005242.3
p.S164R
c.492C>G
2 papers
NM_001005242.3
p.S164R
c.492C>A
1 paper
NM_001005242.3
p.D165G
c.494A>G
2 papers
NM_001005242.3
p.S164R
c.490A>C
1 paper
NM_001005242.3
p.Y166delFs
c.497delT
1 paper
NM_001005242.3
p.Q167*
c.499C>T
1 paper
NM_001005242.3
p.H163N
c.487C>A
3 papers
NM_001005242.3
p.T162M
c.485C>T
1 paper
NM_001005242.3
p.R158_T162delFs
c.472_484del13
1 paper
NM_001005242.3
p.T162A
c.484A>G
3 papers
NM_001005242.3
p.Y168*
c.504C>G
3 papers
NM_001005242.3
p.Y168*
c.504C>A
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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."