Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.C175S

GJB4

266 papers

RefSeq Summary

This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrok...

Pfam Domains

Connexinaa 2–210UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 4

HGNC Alias Symbol

CX30.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153212.3
p.C175S
c.524G>C
Surrounding Variants
1 paper
NM_153212.3
p.C175S
c.523T>A
1 paper
NM_153212.3
p.D174A
c.521A>C
1 paper
NM_153212.3
p.D174N
c.520G>A
2 papers
NM_153212.3
p.T172T
c.516T>C
1 paper
NM_153212.3
p.R179W
c.535C>T
1 paper
NM_153212.3
p.R179Q
c.536G>A
2 papers
NM_153212.3
p.P180S
c.538C>T
1 paper
NM_153212.3
p.P170S
c.508C>T
4 papers
NM_153212.3
p.C169*
c.507C>A
17 papers
NM_153212.3
p.C169W
c.507C>G
3 papers
NM_153212.3
p.C169C
c.507C>T
3 papers
NM_153212.3
p.T181M
c.542C>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."