Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.R160H

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.R160H
c.479G>A
Surrounding Variants
5 papers
NM_024009.3
p.M158I
c.474G>A
5 papers
NM_024009.3
p.M158I
c.474G>C
5 papers
NM_024009.3
p.M158I
c.474G>T
2 papers
NM_024009.3
p.A165T
c.493G>A
1 paper
NM_024009.3
p.G155S
c.463G>A
19 papers
NM_024009.3
p.N166S
c.497A>G
1 paper
NM_024009.3
p.W153*
c.459G>A
2 papers
NM_024009.3
p.W153C
c.459G>C
2 papers
NM_024009.3
p.W153C
c.459G>T
1 paper
NM_024009.3
p.W153delFs
c.459delG
1 paper
NM_024009.3
p.A168P
c.502G>C
1 paper
NM_024009.3
p.A168_P169insFs
c.504_505ins4
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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."