Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.W153C

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
2 papers
NM_024009.3
p.W153C
c.459G>C
Surrounding Variants
1 paper
NM_024009.3
p.W153*
c.459G>A
2 papers
NM_024009.3
p.W153C
c.459G>T
1 paper
NM_024009.3
p.W153delFs
c.459delG
1 paper
NM_024009.3
p.G155S
c.463G>A
1 paper
NM_024009.3
p.L152V
c.454C>G
5 papers
NM_024009.3
p.M158I
c.474G>A
5 papers
NM_024009.3
p.M158I
c.474G>C
5 papers
NM_024009.3
p.M158I
c.474G>T
2 papers
NM_024009.3
p.R160H
c.479G>A
1 paper
NM_024009.3
p.Y147D
c.439T>G
3 papers
NM_024009.3
p.L146P
c.437T>C
1 paper
NM_024009.3
p.F145delFs
c.434delT
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