Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.R75H

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
2 papers
NM_024009.3
p.R75H
c.224G>A
Surrounding Variants
1 paper
NM_024009.3
p.R75R
c.225C>G
2 papers
NM_024009.3
p.R75C
c.223C>T
1 paper
NM_024009.3
p.N73K
c.219C>A
1 paper
NM_024009.3
p.N73K
c.219C>G
1 paper
NM_024009.3
p.I74delFs
c.220delA
6 papers
NM_024009.3
p.W77R
c.229T>A
6 papers
NM_024009.3
p.W77R
c.229T>C
1 paper
NM_024009.3
p.W77insFs
c.229_230insGC
3 papers
NM_024009.3
p.W77*
c.230G>A
1 paper
NM_024009.3
p.W77S
c.230G>C
3 papers
NM_024009.3
p.W77*
c.231G>A
1 paper
NM_024009.3
p.S72_N73insFs
c.216_217insA
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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."