Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.D66del1

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
14 papers
NM_024009.3
p.D66del1
c.196_197delGAC
Surrounding Variants
1 paper
NM_024009.3
p.Y65H
c.193T>C
16 papers
NM_024009.3
p.Y65F
c.194A>T
1 paper
NM_024009.3
p.C64*
c.192C>A
1 paper
NM_024009.3
p.Y65*
c.195C>A
1 paper
NM_024009.3
p.Y65*
c.195C>G
1 paper
NM_024009.3
p.Y65Y
c.195C>T
2 papers
NM_024009.3
p.C64S
c.191G>C
1 paper
NM_024009.3
p.Y65_D66del2
c.193_197del6
3 papers
NM_024009.3
p.D66N
c.196G>A
15 papers
NM_024009.3
p.D66H
c.196G>C
2 papers
NM_024009.3
p.C64S
c.190T>A
1 paper
NM_024009.3
p.D66A
c.197A>C
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