Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.W77*

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.W77*
c.231G>A
Surrounding Variants
1 paper
NM_153212.3
p.W77*
c.230G>A
1 paper
NM_153212.3
p.W77S
c.230G>C
6 papers
NM_153212.3
p.L79delFs
c.235delC
1 paper
NM_153212.3
p.A78V
c.233C>T
2 papers
NM_153212.3
p.W77R
c.229T>A
2 papers
NM_153212.3
p.W77R
c.229T>C
2 papers
NM_153212.3
p.L79P
c.236T>C
6 papers
NM_153212.3
p.Q80*
c.238C>T
1 paper
NM_153212.3
p.Q80P
c.239A>C
1 paper
NM_153212.3
p.Q80R
c.239A>G
2 papers
NM_153212.3
p.R75C
c.223C>T
1 paper
NM_153212.3
p.L81F
c.241C>T
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