Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.A19A

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.A19A
c.57G>T
Surrounding Variants
3 papers
NM_024009.3
p.T18I
c.53C>T
2 papers
NM_024009.3
p.G21R
c.61G>A
2 papers
NM_024009.3
p.G21R
c.61G>C
1 paper
NM_024009.3
p.R22delFs
c.65_66delGC
2 papers
NM_024009.3
p.S17_G21delins
c.51_63delinsA
2 papers
NM_024009.3
p.S17Y
c.50C>A
1 paper
NM_024009.3
p.R22G
c.64C>G
1 paper
NM_024009.3
p.R22C
c.64C>T
5 papers
NM_024009.3
p.R22H
c.65G>A
2 papers
NM_024009.3
p.K15K
c.45G>A
1 paper
NM_024009.3
p.K15_Y16insFs
c.45_46insG
2 papers
NM_024009.3
p.K15T
c.44A>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."