Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.G12R

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
39 papers
NM_024009.3
p.G12R
c.34G>C
Surrounding Variants
16 papers
NM_024009.3
p.G12S
c.34G>A
2 papers
NM_024009.3
p.G12C
c.34G>T
2 papers
NM_024009.3
p.G12fs
c.34_35fs
8 papers
NM_024009.3
p.G12insFs
c.35_36insG
1 paper
NM_024009.3
p.S11S
c.33C>T
41 papers
NM_024009.3
p.G12delFs
c.35delG
41 papers
NM_024009.3
p.G12D
c.35G>A
5 papers
NM_024009.3
p.G12V
c.35G>T
1 paper
NM_024009.3
p.G12_V13insFs
c.36_37insG
1 paper
NM_024009.3
p.V13L
c.37G>C
1 paper
NM_024009.3
p.V13L
c.37G>T
2 papers
NM_024009.3
p.L10R
c.29T>G
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