Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.N54I

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.N54I
c.161A>T
Surrounding Variants
2 papers
NM_153212.3
p.N54H
c.160A>C
4 papers
NM_153212.3
p.N54K
c.162C>A
4 papers
NM_153212.3
p.N54K
c.162C>G
2 papers
NM_153212.3
p.T55I
c.164C>T
1 paper
NM_153212.3
p.C53R
c.157T>C
3 papers
NM_153212.3
p.V52fs
c.154_155fs
1 paper
NM_153212.3
p.Q57*
c.169C>T
1 paper
NM_153212.3
p.V52_C53del2
c.154_158del6
8 papers
NM_153212.3
p.V52_C53delFs
c.155_158del4
2 papers
NM_153212.3
p.F51fs
c.151_152fs
2 papers
NM_153212.3
p.F51fs
c.151_152fs
2 papers
NM_153212.3
p.F51delFs
c.153delT
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