Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.D66A

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.D66A
c.197A>C
Surrounding Variants
1 paper
NM_153212.3
p.D66E
c.198C>A
1 paper
NM_153212.3
p.D66E
c.198C>G
9 papers
NM_153212.3
p.D66H
c.196G>C
2 papers
NM_153212.3
p.E67K
c.199G>A
1 paper
NM_153212.3
p.Y65*
c.195T>A
1 paper
NM_153212.3
p.Y65*
c.195T>G
2 papers
NM_153212.3
p.Y65H
c.193T>C
1 paper
NM_153212.3
p.F68V
c.202T>G
1 paper
NM_153212.3
p.F69L
c.205T>C
1 paper
NM_153212.3
p.F69L
c.207C>A
1 paper
NM_153212.3
p.F69L
c.207C>G
4 papers
NM_153212.3
p.V63I
c.187G>A
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