Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.R103C

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
11 papers
NM_153212.3
p.R103C
c.307C>T
Surrounding Variants
2 papers
NM_153212.3
p.E102K
c.304G>A
2 papers
NM_153212.3
p.R101R
c.303C>G
7 papers
NM_153212.3
p.R101H
c.302G>A
2 papers
NM_153212.3
p.H105R
c.314A>G
1 paper
NM_153212.3
p.E100K
c.298G>A
4 papers
NM_153212.3
p.E99K
c.295G>A
1 paper
NM_153212.3
p.R98H
c.293G>A
1 paper
NM_153212.3
p.R98L
c.293G>T
18 papers
NM_153212.3
p.R98C
c.292C>T
3 papers
NM_153212.3
p.G110R
c.328G>A
3 papers
NM_153212.3
p.G110R
c.328G>C
5 papers
NM_153212.3
p.V95M
c.283G>A
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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."