Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.C60G

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.C60G
c.178T>G
Surrounding Variants
5 papers
NM_153212.3
p.G59A
c.176G>C
1 paper
NM_153212.3
p.P61A
c.181C>G
4 papers
NM_153212.3
p.G59S
c.175G>A
5 papers
NM_153212.3
p.G59R
c.175G>C
3 papers
NM_153212.3
p.P61R
c.182C>G
1 paper
NM_153212.3
p.Q57*
c.169C>T
4 papers
NM_153212.3
p.V63I
c.187G>A
1 paper
NM_153212.3
p.V63F
c.187G>T
2 papers
NM_153212.3
p.T55I
c.164C>T
2 papers
NM_153212.3
p.Y65H
c.193T>C
4 papers
NM_153212.3
p.N54K
c.162C>A
4 papers
NM_153212.3
p.N54K
c.162C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."