Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.L89delFs

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.L89delFs
c.266delT
Surrounding Variants
3 papers
NM_024009.3
p.L90V
c.268C>G
1 paper
NM_024009.3
p.L90delFs
c.269delT
15 papers
NM_024009.3
p.L90P
c.269T>C
1 paper
NM_024009.3
p.P87S
c.259C>T
33 papers
NM_024009.3
p.C86S
c.257G>C
2 papers
NM_024009.3
p.P87del1
c.259_260delCCC
33 papers
NM_024009.3
p.C86S
c.256T>A
5 papers
NM_024009.3
p.T85P
c.253A>C
1 paper
NM_024009.3
p.L93Q
c.278T>A
1 paper
NM_024009.3
p.V84A
c.251T>C
1 paper
NM_024009.3
p.H94N
c.280C>A
1 paper
NM_024009.3
p.H94D
c.280C>G
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