Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R355del1

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.R355del1
c.1063_1064delTCG
Surrounding Variants
1 paper
NM_001005242.3
p.A356V
c.1067C>T
1 paper
NM_001005242.3
p.R355P
c.1064G>C
2 papers
NM_001005242.3
p.R355Q
c.1064G>A
1 paper
NM_001005242.3
p.V357M
c.1069G>A
1 paper
NM_001005242.3
p.V357fs
c.1069_1070fs
10 papers
NM_001005242.3
p.R355*
c.1063C>T
1 paper
NM_001005242.3
p.E354Q
c.1060G>C
1 paper
NM_001005242.3
p.L360P
c.1079T>C
2 papers
NM_001005242.3
p.M351I
c.1053G>T
2 papers
NM_001005242.3
p.M351I
c.1053G>C
2 papers
NM_001005242.3
p.M351I
c.1053G>A
1 paper
NM_001005242.3
p.E361Q
c.1081G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."