Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.T5I

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
Selected Variant
1 paper
NM_024009.3
p.T5I
c.14C>T
Surrounding Variants
1 paper
NM_024009.3
p.K4K
c.12G>A
1 paper
NM_024009.3
p.K4N
c.12G>C
1 paper
NM_024009.3
p.K4insFs
c.11_12insG
1 paper
NM_024009.3
p.K4M
c.11A>T
3 papers
NM_024009.3
p.W3*
c.9G>A
1 paper
NM_024009.3
p.Q7P
c.20A>C
3 papers
NM_024009.3
p.W3*
c.8G>A
2 papers
NM_024009.3
p.A8V
c.23C>T
1 paper
NM_024009.3
p.A8A
c.24C>A
1 paper
NM_024009.3
p.M1insFs
c.1_2insG
3 papers
NM_024009.3
p.M1V
c.1A>G
1 paper
NM_024009.3
p.M1_L6delFs
c.1_16del16
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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."