Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.V174M

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
15 papers
NM_024009.3
p.V174M
c.520G>A
Surrounding Variants
1 paper
NM_024009.3
p.C176_M191del16
c.526_572del48
4 papers
NM_024009.3
p.P171insFs
c.512_513ins4
2 papers
NM_024009.3
p.P171insFs
c.511_512ins4
10 papers
NM_024009.3
p.Y177D
c.529T>G
1 paper
NM_024009.3
p.C170S
c.508T>A
1 paper
NM_024009.3
p.P169P
c.507C>A
2 papers
NM_024009.3
p.P169_C170insFs
c.507_508ins4
1 paper
NM_024009.3
p.P169P
c.507C>G
1 paper
NM_024009.3
p.A168_P169insFs
c.504_505ins4
1 paper
NM_024009.3
p.R180G
c.538C>G
131 papers
NM_024009.3
p.R180*
c.538C>T
1 paper
NM_024009.3
p.A168P
c.502G>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."