Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.Q261*

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.Q261*
c.781C>T
Surrounding Variants
1 paper
NM_024009.3
p.K259_L260delins
c.777_778delinsCC
1 paper
NM_024009.3
p.A264T
c.790G>A
4 papers
NM_024009.3
p.G256S
c.766G>A
9 papers
NM_024009.3
p.N266N
c.798C>T
1 paper
NM_024009.3
p.D254E
c.762C>A
1 paper
NM_024009.3
p.D254E
c.762C>G
1 paper
NM_024009.3
p.P269_I270del1
c.806_808delCCA
1 paper
NM_024009.3
p.V251A
c.752T>C
1 paper
NM_024009.3
p.*271W
c.813A>G
1 paper
NM_024009.3
p.A248delFs
c.744delT
1 paper
NM_024009.3
p.K244insFs
c.730_731insG
1 paper
NM_024009.3
p.R240G
c.718C>G
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