Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.L93Q

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.L93Q
c.278T>A
Surrounding Variants
1 paper
NM_024009.3
p.H94N
c.280C>A
1 paper
NM_024009.3
p.H94D
c.280C>G
14 papers
NM_024009.3
p.V95M
c.283G>A
6 papers
NM_024009.3
p.V95V
c.285G>C
1 paper
NM_024009.3
p.A96T
c.286G>A
1 paper
NM_024009.3
p.A96S
c.286G>T
15 papers
NM_024009.3
p.L90P
c.269T>C
3 papers
NM_024009.3
p.L90V
c.268C>G
1 paper
NM_024009.3
p.L90delFs
c.269delT
1 paper
NM_024009.3
p.Y97_R98insFs
c.291_292insA
1 paper
NM_024009.3
p.L89delFs
c.266delT
2 papers
NM_024009.3
p.R98C
c.292C>T
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