Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.L10R

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.L10R
c.29T>G
Surrounding Variants
2 papers
NM_153212.3
p.L10delFs
c.30delG
2 papers
NM_153212.3
p.G12insFs
c.35_36insG
7 papers
NM_153212.3
p.G12delFs
c.35delG
1 paper
NM_153212.3
p.G12S
c.34G>A
10 papers
NM_153212.3
p.G12R
c.34G>C
2 papers
NM_153212.3
p.G12fs
c.34_35fs
25 papers
NM_153212.3
p.G12D
c.35G>A
2 papers
NM_153212.3
p.G12V
c.35G>T
2 papers
NM_153212.3
p.V13M
c.37G>A
1 paper
NM_153212.3
p.N14D
c.40A>G
4 papers
NM_153212.3
p.N14Y
c.40A>T
5 papers
NM_153212.3
p.N14K
c.42C>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."