Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.I30N

GJB5

101 papers

RefSeq Summary

This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and en...

Pfam Domains

Connexinaa 2–210UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 5

HGNC Alias Symbol

CX31.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005268.4
p.I30N
c.89T>A
Surrounding Variants
1 paper
NM_005268.4
p.R32C
c.94C>T
1 paper
NM_005268.4
p.S26Y
c.77C>A
1 paper
NM_005268.4
p.L34P
c.101T>C
1 paper
NM_005268.4
p.W24*
c.72G>A
1 paper
NM_005268.4
p.W24*
c.71G>A
3 papers
NM_005268.4
p.R22H
c.65G>A
1 paper
NM_005268.4
p.R22C
c.64C>T
4 papers
NM_005268.4
p.A40V
c.119C>T
6 papers
NM_005268.4
p.R42P
c.125G>C
1 paper
NM_005268.4
p.W44S
c.131G>C
3 papers
NM_005268.4
p.W44C
c.132G>C
3 papers
NM_005268.4
p.W44C
c.132G>T
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