Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.G256R

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.G256R
c.766G>A
Surrounding Variants
1 paper
NM_153212.3
p.S257L
c.770C>T
1 paper
NM_153212.3
p.G248E
c.743G>A
1 paper
NM_153212.3
p.E246A
c.737A>C
1 paper
NM_153212.3
p.P266S
c.796C>T
1 paper
NM_153212.3
p.H244Q
c.732C>A
1 paper
NM_153212.3
p.H244Q
c.732C>G
1 paper
NM_153212.3
p.H244insFs
c.730_731insG
1 paper
NM_153212.3
p.Q241K
c.721C>A
3 papers
NM_153212.3
p.T233K
c.698C>A
1 paper
NM_153212.3
p.T233M
c.698C>T
1 paper
NM_153212.3
p.P231S
c.691C>T
1 paper
NM_153212.3
p.C229delFs
c.687delC
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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."