Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.V52_C53delFs

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
8 papers
NM_153212.3
p.V52_C53delFs
c.155_158del4
Surrounding Variants
2 papers
NM_153212.3
p.F51fs
c.151_152fs
1 paper
NM_153212.3
p.V52_C53del2
c.154_158del6
2 papers
NM_153212.3
p.F51fs
c.151_152fs
2 papers
NM_153212.3
p.F51delFs
c.153delT
3 papers
NM_153212.3
p.V52fs
c.154_155fs
1 paper
NM_153212.3
p.D50A
c.149A>C
1 paper
NM_153212.3
p.D50V
c.149A>T
6 papers
NM_153212.3
p.D50N
c.148G>A
5 papers
NM_153212.3
p.D50Y
c.148G>T
1 paper
NM_153212.3
p.C53R
c.157T>C
2 papers
NM_153212.3
p.N54H
c.160A>C
1 paper
NM_153212.3
p.N54I
c.161A>T
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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."