Varaico: Literature-Extracted Genetic Variants

Gene:GJB4

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
1–12 of 213 variants
25 papers
NM_153212.3
p.G12D
c.35G>A
22 papers
NM_153212.3
p.F137L
c.411C>G
21 papers
NM_153212.3
p.F137L
c.409T>C
21 papers
NM_153212.3
p.F137L
c.411C>A
18 papers
NM_153212.3
p.R98C
c.292C>T
18 papers
NM_153212.3
p.E204A
c.611A>C
17 papers
NM_153212.3
p.C169W
c.507C>G
16 papers
NM_153212.3
p.T85P
c.253A>C
15 papers
NM_153212.3
p.R22H
c.65G>A
14 papers
NM_153212.3
p.V37M
c.109G>A
12 papers
NM_153212.3
p.A40V
c.119C>T
12 papers
NM_153212.3
p.F189Y
c.566T>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."