Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.C86S

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.C86S
c.257G>C
Surrounding Variants
1 paper
NM_153212.3
p.P87del1
c.259_260delCCC
1 paper
NM_153212.3
p.C86*
c.258C>A
8 papers
NM_153212.3
p.C86S
c.256T>A
1 paper
NM_153212.3
p.C86R
c.256T>C
2 papers
NM_153212.3
p.T85M
c.254C>T
16 papers
NM_153212.3
p.T85P
c.253A>C
1 paper
NM_153212.3
p.V84I
c.250G>A
1 paper
NM_153212.3
p.V84L
c.250G>C
3 papers
NM_153212.3
p.L90V
c.268C>G
1 paper
NM_153212.3
p.L81F
c.241C>T
1 paper
NM_153212.3
p.Q80P
c.239A>C
1 paper
NM_153212.3
p.Q80R
c.239A>G
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