Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.V71M

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.V71M
c.211G>A
Surrounding Variants
1 paper
NM_153212.3
p.F69L
c.207C>A
1 paper
NM_153212.3
p.F69L
c.207C>G
1 paper
NM_153212.3
p.S72F
c.215C>T
1 paper
NM_153212.3
p.F69L
c.205T>C
3 papers
NM_153212.3
p.H73R
c.218A>G
2 papers
NM_153212.3
p.H73H
c.219C>T
3 papers
NM_153212.3
p.V74M
c.220G>A
1 paper
NM_153212.3
p.F68V
c.202T>G
2 papers
NM_153212.3
p.R75C
c.223C>T
2 papers
NM_153212.3
p.E67K
c.199G>A
1 paper
NM_153212.3
p.D66E
c.198C>A
1 paper
NM_153212.3
p.D66E
c.198C>G
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