Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.M93V

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.M93V
c.277A>G
Surrounding Variants
1 paper
NM_153212.3
p.M93I
c.279G>A
1 paper
NM_153212.3
p.M93I
c.279G>C
1 paper
NM_153212.3
p.M93I
c.279G>T
1 paper
NM_153212.3
p.H94D
c.280C>G
1 paper
NM_153212.3
p.H94Y
c.280C>T
5 papers
NM_153212.3
p.V95M
c.283G>A
3 papers
NM_153212.3
p.L90V
c.268C>G
18 papers
NM_153212.3
p.R98C
c.292C>T
1 paper
NM_153212.3
p.R98H
c.293G>A
1 paper
NM_153212.3
p.R98L
c.293G>T
4 papers
NM_153212.3
p.E99K
c.295G>A
1 paper
NM_153212.3
p.C86*
c.258C>A
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."