Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.H143R

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.H143R
c.428A>G
Surrounding Variants
1 paper
NM_001005242.3
p.H143Y
c.427C>T
1 paper
NM_001005242.3
p.R142S
c.426G>T
1 paper
NM_001005242.3
p.R142S
c.426G>C
1 paper
NM_001005242.3
p.R142T
c.425G>C
1 paper
NM_001005242.3
p.L145P
c.434T>C
1 paper
NM_001005242.3
p.L145delFs
c.433_434delAG
1 paper
NM_001005242.3
p.R146G
c.436A>G
2 papers
NM_001005242.3
p.R146K
c.437G>A
48 papers
NM_001005242.3
p.S140F
c.419C>T
4 papers
NM_001005242.3
p.S140T
c.418T>A
2 papers
NM_001005242.3
p.E138D
c.414A>T
1 paper
NM_001005242.3
p.E138E
c.414A>G
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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."