Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.Y153_Y156del4

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.Y153_Y156del4
c.457_467del12
Surrounding Variants
1 paper
NM_153212.3
p.K154_D157del4
c.460_470del12
1 paper
NM_153212.3
p.D155_M158del4
c.463_473del12
6 papers
NM_153212.3
p.R151S
c.451C>A
1 paper
NM_153212.3
p.M158I
c.474G>A
2 papers
NM_153212.3
p.P159S
c.475C>T
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.D142N
c.424G>A
1 paper
NM_153212.3
p.A140A
c.420C>T
1 paper
NM_153212.3
p.A140T
c.418G>A
1 paper
NM_153212.3
p.V166M
c.496G>A
1 paper
NM_153212.3
p.E167G
c.500A>G
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