Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.W129*

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
4 papers
NM_153212.3
p.W129*
c.387G>A
Surrounding Variants
4 papers
NM_153212.3
p.W129*
c.386G>A
7 papers
NM_153212.3
p.T130M
c.389C>T
9 papers
NM_153212.3
p.W128*
c.384G>A
9 papers
NM_153212.3
p.W128*
c.383G>A
5 papers
NM_153212.3
p.G126R
c.376G>A
2 papers
NM_153212.3
p.G126R
c.376G>C
8 papers
NM_153212.3
p.R124Q
c.371G>A
6 papers
NM_153212.3
p.R124W
c.370C>T
3 papers
NM_153212.3
p.K123K
c.369G>A
1 paper
NM_153212.3
p.I136I
c.408C>A
21 papers
NM_153212.3
p.F137L
c.409T>C
21 papers
NM_153212.3
p.F137L
c.411C>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."