Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.V166M

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.V166M
c.496G>A
Surrounding Variants
1 paper
NM_153212.3
p.E167G
c.500A>G
4 papers
NM_153212.3
p.C169*
c.507C>A
17 papers
NM_153212.3
p.C169W
c.507C>G
3 papers
NM_153212.3
p.C169C
c.507C>T
1 paper
NM_153212.3
p.P170S
c.508C>T
1 paper
NM_153212.3
p.R160H
c.479G>A
7 papers
NM_153212.3
p.R160C
c.478C>T
2 papers
NM_153212.3
p.T172T
c.516T>C
2 papers
NM_153212.3
p.P159S
c.475C>T
1 paper
NM_153212.3
p.M158I
c.474G>A
1 paper
NM_153212.3
p.D174N
c.520G>A
1 paper
NM_153212.3
p.D174A
c.521A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."