Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.H124Y

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.H124Y
c.370C>T
Surrounding Variants
2 papers
NM_024009.3
p.K123K
c.369G>A
1 paper
NM_024009.3
p.G125R
c.373G>A
1 paper
NM_024009.3
p.K123delFs
c.367delA
1 paper
NM_024009.3
p.G126S
c.376G>A
1 paper
NM_024009.3
p.G121delFs
c.363delC
13 papers
NM_024009.3
p.N119N
c.357C>T
1 paper
NM_024009.3
p.N119T
c.356A>C
1 paper
NM_024009.3
p.W129C
c.387G>C
1 paper
NM_024009.3
p.W129C
c.387G>T
1 paper
NM_024009.3
p.L132V
c.394C>G
1 paper
NM_024009.3
p.L132L
c.396G>A
1 paper
NM_024009.3
p.K115fs
c.343_344fs
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