Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.A114delFs

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.A114delFs
c.342delC
Surrounding Variants
2 papers
NM_024009.3
p.A114T
c.340G>A
1 paper
NM_024009.3
p.K115fs
c.343_344fs
1 paper
NM_024009.3
p.D111D
c.333C>T
1 paper
NM_024009.3
p.G110R
c.328G>A
1 paper
NM_024009.3
p.H109H
c.327C>T
1 paper
NM_024009.3
p.N119T
c.356A>C
13 papers
NM_024009.3
p.N119N
c.357C>T
1 paper
NM_024009.3
p.G121delFs
c.363delC
5 papers
NM_024009.3
p.R106H
c.317G>A
1 paper
NM_024009.3
p.R106C
c.316C>T
1 paper
NM_024009.3
p.K123delFs
c.367delA
1 paper
NM_024009.3
p.R104R
c.312G>A
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