Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.F83S

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.F83S
c.248T>C
Surrounding Variants
4 papers
NM_024009.3
p.F83L
c.249C>A
5 papers
NM_024009.3
p.F83L
c.249C>G
1 paper
NM_024009.3
p.F83F
c.249C>T
4 papers
NM_024009.3
p.F83L
c.247T>C
1 paper
NM_024009.3
p.I82M
c.246C>G
24 papers
NM_024009.3
p.V84I
c.250G>A
6 papers
NM_024009.3
p.V84L
c.250G>C
1 paper
NM_024009.3
p.V84_T85insC
c.250_254ins3
1 paper
NM_024009.3
p.V84A
c.251T>C
5 papers
NM_024009.3
p.T85P
c.253A>C
1 paper
NM_024009.3
p.L81L
c.243C>T
1 paper
NM_024009.3
p.L81insFs
c.242_243ins4
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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."