Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.I30N

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.I30N
c.89T>A
Surrounding Variants
1 paper
NM_153212.3
p.I30T
c.89T>C
4 papers
NM_153212.3
p.R32C
c.94C>T
2 papers
NM_153212.3
p.R32H
c.95G>A
1 paper
NM_153212.3
p.R32P
c.95G>C
2 papers
NM_153212.3
p.R32L
c.95G>T
1 paper
NM_153212.3
p.V28G
c.83T>G
2 papers
NM_153212.3
p.V27M
c.79G>A
3 papers
NM_153212.3
p.S26Y
c.77C>A
2 papers
NM_153212.3
p.L34P
c.101T>C
1 paper
NM_153212.3
p.W24*
c.72G>A
1 paper
NM_153212.3
p.W24C
c.72G>C
1 paper
NM_153212.3
p.W24C
c.72G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."