Varaico: Literature-Extracted Genetic Variants

Gene:GJB5

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
1–12 of 82 variants
6 papers
NM_005268.4
p.G12R
c.34G>A
6 papers
NM_005268.4
p.G12R
c.34G>C
6 papers
NM_005268.4
p.R42P
c.125G>C
6 papers
NM_005268.4
p.D66H
c.196G>C
4 papers
NM_005268.4
p.N14Y
c.40A>T
4 papers
NM_005268.4
p.A40V
c.119C>T
4 papers
NM_005268.4
p.D50Y
c.148G>T
4 papers
NM_005268.4
p.F137L
c.409T>C
4 papers
NM_005268.4
p.F137L
c.411C>A
4 papers
NM_005268.4
p.F137L
c.411C>G
3 papers
NM_005268.4
p.N14K
c.42C>A
3 papers
NM_005268.4
p.N14K
c.42C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."