Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.A324insFs

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.A324insFs
c.971_972insCT
Surrounding Variants
1 paper
NM_001005242.3
p.A324_A325insFs
c.972_973insT
3 papers
NM_001005242.3
p.A324fs
c.970_971fs
1 paper
NM_001005242.3
p.Q323_A324delFs
c.968_971del4
1 paper
NM_001005242.3
p.V321_A324delFs
c.962_972del11
1 paper
NM_001005242.3
p.A324V
c.971C>T
1 paper
NM_001005242.3
p.A324G
c.971C>G
1 paper
NM_001005242.3
p.A324insFs
c.971_972insT
1 paper
NM_001005242.3
p.Q323_A324delins
c.968_971delinsGCCT
2 papers
NM_001005242.3
p.A325fs
c.973_974fs
4 papers
NM_001005242.3
p.Q323delFs
c.968_969delCT
2 papers
NM_001005242.3
p.A324fs
c.970_971fs
1 paper
NM_001005242.3
p.A325V
c.974C>T
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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."