Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.S26S

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.S26S
c.78C>G
Surrounding Variants
2 papers
NM_024009.3
p.S26Y
c.77C>A
1 paper
NM_024009.3
p.S26F
c.77C>T
8 papers
NM_024009.3
p.V27M
c.79G>A
1 paper
NM_024009.3
p.V27A
c.80T>C
11 papers
NM_024009.3
p.W24*
c.72G>A
1 paper
NM_024009.3
p.V28_F29insFs
c.84_85insC
16 papers
NM_024009.3
p.W24*
c.71G>A
1 paper
NM_024009.3
p.F29F
c.87C>T
6 papers
NM_024009.3
p.V30I
c.88G>A
5 papers
NM_024009.3
p.R22H
c.65G>A
1 paper
NM_024009.3
p.F31L
c.91T>C
1 paper
NM_024009.3
p.R22G
c.64C>G
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