Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.E204A

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
18 papers
NM_153212.3
p.E204A
c.611A>C
Surrounding Variants
1 paper
NM_153212.3
p.C213*
c.639C>A
1 paper
NM_153212.3
p.T193insFs
c.578_579insG
2 papers
NM_153212.3
p.G218D
c.653G>A
4 papers
NM_153212.3
p.M190L
c.568A>C
4 papers
NM_153212.3
p.M190L
c.568A>T
1 paper
NM_153212.3
p.F189L
c.567C>A
1 paper
NM_153212.3
p.F189L
c.567C>G
12 papers
NM_153212.3
p.F189Y
c.566T>A
1 paper
NM_153212.3
p.F189L
c.565T>C
2 papers
NM_153212.3
p.H221Y
c.661C>T
1 paper
NM_153212.3
p.R222W
c.664C>T
1 paper
NM_153212.3
p.R222Q
c.665G>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."