Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.L90V

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
3 papers
NM_153212.3
p.L90V
c.268C>G
Surrounding Variants
1 paper
NM_153212.3
p.M93V
c.277A>G
1 paper
NM_153212.3
p.C86*
c.258C>A
1 paper
NM_153212.3
p.M93I
c.279G>A
8 papers
NM_153212.3
p.C86S
c.257G>C
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.P87del1
c.259_260delCCC
1 paper
NM_153212.3
p.H94D
c.280C>G
1 paper
NM_153212.3
p.H94Y
c.280C>T
8 papers
NM_153212.3
p.C86S
c.256T>A
1 paper
NM_153212.3
p.C86R
c.256T>C
2 papers
NM_153212.3
p.T85M
c.254C>T
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