Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.N14D

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
3 papers
NM_024009.3
p.N14D
c.40A>G
Surrounding Variants
3 papers
NM_024009.3
p.N14Y
c.40A>T
2 papers
NM_024009.3
p.N14K
c.42C>A
2 papers
NM_024009.3
p.N14K
c.42C>G
1 paper
NM_024009.3
p.V13L
c.37G>C
1 paper
NM_024009.3
p.V13L
c.37G>T
1 paper
NM_024009.3
p.K15_Y16insFs
c.45_46insG
2 papers
NM_024009.3
p.K15T
c.44A>C
1 paper
NM_024009.3
p.G12_V13insFs
c.36_37insG
41 papers
NM_024009.3
p.G12D
c.35G>A
2 papers
NM_024009.3
p.K15K
c.45G>A
5 papers
NM_024009.3
p.G12V
c.35G>T
16 papers
NM_024009.3
p.G12S
c.34G>A
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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."