Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.E47*

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
4 papers
NM_024009.3
p.E47*
c.139G>T
Surrounding Variants
3 papers
NM_024009.3
p.E47K
c.139G>A
4 papers
NM_024009.3
p.E47D
c.141G>C
4 papers
NM_024009.3
p.E47D
c.141G>T
1 paper
NM_024009.3
p.K49del1
c.145_146delAAG
19 papers
NM_024009.3
p.G45E
c.134G>A
3 papers
NM_024009.3
p.G45A
c.134G>C
1 paper
NM_024009.3
p.G45_D46insG
c.133_137ins3
1 paper
NM_024009.3
p.G45W
c.133G>T
3 papers
NM_024009.3
p.W44*
c.132G>A
7 papers
NM_024009.3
p.W44C
c.132G>C
7 papers
NM_024009.3
p.W44C
c.132G>T
2 papers
NM_024009.3
p.W44*
c.131G>A
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