Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.D50A

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.D50A
c.149A>C
Surrounding Variants
3 papers
NM_005268.4
p.D50N
c.148G>A
4 papers
NM_005268.4
p.D50Y
c.148G>T
1 paper
NM_005268.4
p.D47A
c.140A>C
2 papers
NM_005268.4
p.N54H
c.160A>C
2 papers
NM_005268.4
p.N54K
c.162T>A
2 papers
NM_005268.4
p.N54K
c.162T>G
1 paper
NM_005268.4
p.R56C
c.166C>T
3 papers
NM_005268.4
p.W44C
c.132G>C
3 papers
NM_005268.4
p.W44C
c.132G>T
1 paper
NM_005268.4
p.W44S
c.131G>C
6 papers
NM_005268.4
p.R42P
c.125G>C
1 paper
NM_005268.4
p.P58P
c.174C>T
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