Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S154R

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
5 papers
NM_001005242.3
p.S154R
c.462C>G
Surrounding Variants
5 papers
NM_001005242.3
p.S154R
c.462C>A
2 papers
NM_001005242.3
p.S154N
c.461G>A
7 papers
NM_001005242.3
p.S155T
c.464G>C
5 papers
NM_001005242.3
p.S154R
c.460A>C
1 paper
NM_001005242.3
p.D153E
c.459C>G
1 paper
NM_001005242.3
p.D153E
c.459C>A
1 paper
NM_001005242.3
p.P156A
c.466C>G
2 papers
NM_001005242.3
p.D153N
c.457G>A
1 paper
NM_001005242.3
p.P156L
c.467C>T
1 paper
NM_001005242.3
p.P156P
c.468G>A
15 papers
NM_001005242.3
p.L148_S151del4
c.442_452del12
1 paper
NM_001005242.3
p.P152S
c.454C>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."