Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.P159S

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
2 papers
NM_153212.3
p.P159S
c.475C>T
Surrounding Variants
1 paper
NM_153212.3
p.M158I
c.474G>A
7 papers
NM_153212.3
p.R160C
c.478C>T
1 paper
NM_153212.3
p.R160H
c.479G>A
1 paper
NM_153212.3
p.D155_M158del4
c.463_473del12
1 paper
NM_153212.3
p.K154_D157del4
c.460_470del12
1 paper
NM_153212.3
p.Y153_Y156del4
c.457_467del12
1 paper
NM_153212.3
p.V166M
c.496G>A
6 papers
NM_153212.3
p.R151S
c.451C>A
1 paper
NM_153212.3
p.E167G
c.500A>G
4 papers
NM_153212.3
p.C169*
c.507C>A
17 papers
NM_153212.3
p.C169W
c.507C>G
3 papers
NM_153212.3
p.C169C
c.507C>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."