Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.V37E

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
8 papers
NM_153212.3
p.V37E
c.110T>A
Surrounding Variants
14 papers
NM_153212.3
p.V37M
c.109G>A
1 paper
NM_153212.3
p.V38M
c.112G>A
1 paper
NM_153212.3
p.A39P
c.115G>C
2 papers
NM_153212.3
p.A39V
c.116C>T
1 paper
NM_153212.3
p.A40E
c.119C>A
1 paper
NM_153212.3
p.A40G
c.119C>G
12 papers
NM_153212.3
p.A40V
c.119C>T
1 paper
NM_153212.3
p.E42del1
c.124_125delGAG
2 papers
NM_153212.3
p.L34P
c.101T>C
1 paper
NM_153212.3
p.E41D
c.123G>C
1 paper
NM_153212.3
p.E41D
c.123G>T
2 papers
NM_153212.3
p.R32H
c.95G>A
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