Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.T459I

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
1 paper
NM_001005242.3
p.T459I
c.1376C>T
Surrounding Variants
1 paper
NM_001005242.3
p.T459R
c.1376C>G
1 paper
NM_001005242.3
p.T459delFs
c.1375delT
1 paper
NM_001005242.3
p.I458_T459delFs
c.1372_1375del4
1 paper
NM_001005242.3
p.T459fs
c.1375_1376fs
6 papers
NM_001005242.3
p.G460S
c.1378G>A
7 papers
NM_001005242.3
p.Q457_I458delFs
c.1369_1372del4
1 paper
NM_001005242.3
p.G460Splc
c.1378+1G>T
13 papers
NM_001005242.3
p.G460Splc
c.1378+1G>C
7 papers
NM_001005242.3
p.G460Splc
c.1378+1G>A
1 paper
NM_001005242.3
p.I458L
c.1372A>T
7 papers
NM_001005242.3
p.I458V
c.1372A>G
1 paper
NM_001005242.3
p.I458fs
c.1372_1373fs
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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."