Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.M190L

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
4 papers
NM_153212.3
p.M190L
c.568A>T
Surrounding Variants
4 papers
NM_153212.3
p.M190L
c.568A>C
1 paper
NM_153212.3
p.F189L
c.567C>A
1 paper
NM_153212.3
p.F189L
c.567C>G
12 papers
NM_153212.3
p.F189Y
c.566T>A
1 paper
NM_153212.3
p.F189L
c.565T>C
1 paper
NM_153212.3
p.T193insFs
c.578_579insG
3 papers
NM_153212.3
p.T181M
c.542C>T
2 papers
NM_153212.3
p.P180S
c.538C>T
1 paper
NM_153212.3
p.R179Q
c.536G>A
1 paper
NM_153212.3
p.R179W
c.535C>T
18 papers
NM_153212.3
p.E204A
c.611A>C
1 paper
NM_153212.3
p.C175S
c.524G>C
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."