Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.V63A

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.V63A
c.188T>C
Surrounding Variants
1 paper
NM_024009.3
p.V63V
c.189C>A
2 papers
NM_024009.3
p.V63I
c.187G>A
2 papers
NM_024009.3
p.V63L
c.187G>C
1 paper
NM_024009.3
p.V63F
c.187G>T
2 papers
NM_024009.3
p.C64S
c.190T>A
1 paper
NM_024009.3
p.N62S
c.185A>G
2 papers
NM_024009.3
p.C64S
c.191G>C
1 paper
NM_024009.3
p.Y65_D66del2
c.193_197del6
1 paper
NM_024009.3
p.C64*
c.192C>A
1 paper
NM_024009.3
p.Y65H
c.193T>C
14 papers
NM_024009.3
p.D66del1
c.196_197delGAC
16 papers
NM_024009.3
p.Y65F
c.194A>T
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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."