Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.W44S

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
2 papers
NM_153212.3
p.W44S
c.131G>C
Surrounding Variants
5 papers
NM_153212.3
p.W44C
c.132G>C
5 papers
NM_153212.3
p.W44C
c.132G>T
2 papers
NM_153212.3
p.V43M
c.127G>A
1 paper
NM_153212.3
p.E42D
c.126G>C
3 papers
NM_153212.3
p.E42D
c.126G>T
1 paper
NM_153212.3
p.E47K
c.139G>A
1 paper
NM_153212.3
p.E41D
c.123G>C
1 paper
NM_153212.3
p.E41D
c.123G>T
1 paper
NM_153212.3
p.E47V
c.140A>T
1 paper
NM_153212.3
p.A40E
c.119C>A
1 paper
NM_153212.3
p.A40G
c.119C>G
12 papers
NM_153212.3
p.A40V
c.119C>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."