Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.Q80*

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
2 papers
NM_024009.3
p.Q80*
c.238C>T
Surrounding Variants
1 paper
NM_024009.3
p.Q80P
c.239A>C
2 papers
NM_024009.3
p.Q80R
c.239A>G
1 paper
NM_024009.3
p.Q80L
c.239A>T
1 paper
NM_024009.3
p.L79fs
c.235_236fs
1 paper
NM_024009.3
p.L79L
c.235C>T
1 paper
NM_024009.3
p.L79fs
c.235_236fs
1 paper
NM_024009.3
p.L81insFs
c.242_243ins4
1 paper
NM_024009.3
p.L81L
c.243C>T
1 paper
NM_024009.3
p.A78T
c.232G>A
43 papers
NM_024009.3
p.L79delFs
c.235delC
3 papers
NM_024009.3
p.W77*
c.231G>A
1 paper
NM_024009.3
p.I82M
c.246C>G
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