Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.P84L

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.P84L
c.251C>T
Surrounding Variants
2 papers
NM_001005242.3
p.P84S
c.250C>T
4 papers
NM_001005242.3
p.E85fs
c.253_254fs
1 paper
NM_001005242.3
p.V83A
c.248T>C
1 paper
NM_001005242.3
p.E85D
c.255G>T
1 paper
NM_001005242.3
p.V83F
c.247G>T
1 paper
NM_001005242.3
p.E85fs
c.253_254fs
1 paper
NM_001005242.3
p.E85D
c.255G>C
1 paper
NM_001005242.3
p.V83I
c.247G>A
1 paper
NM_001005242.3
p.Y86C
c.257A>G
11 papers
NM_001005242.3
p.E85_Y86delFs
c.253_256del4
5 papers
NM_001005242.3
p.Y86*
c.258T>G
4 papers
NM_001005242.3
p.Y86*
c.258T>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."