Varaico: Literature-Extracted Genetic Variants

Gene:GJB3

GJB3

709 papers

RefSeq Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of...

Pfam Domains

Connexinaa 2–211UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 3

HGNC Previous Symbols

DFNA2; EKV

Papers
RefSeq ID
Protein change
DNA change
1–12 of 329 variants
131 papers
NM_024009.3
p.R180*
c.538C>T
66 papers
NM_024009.3
p.E183K
c.547G>A
45 papers
NM_024009.3
p.R42P
c.125G>C
43 papers
NM_024009.3
p.L79delFs
c.235delC
41 papers
NM_024009.3
p.G12delFs
c.35delG
41 papers
NM_024009.3
p.G12D
c.35G>A
39 papers
NM_024009.3
p.G12R
c.34G>C
36 papers
NM_024009.3
p.A194T
c.580G>A
33 papers
NM_024009.3
p.R32W
c.94C>T
33 papers
NM_024009.3
p.C86S
c.256T>A
33 papers
NM_024009.3
p.C86S
c.257G>C
32 papers
NM_024009.3
p.F137L
c.409T>C
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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."