Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.T238P

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.T238P
c.712A>C
Surrounding Variants
1 paper
NM_024009.3
p.R240G
c.718C>G
1 paper
NM_024009.3
p.R240C
c.718C>T
1 paper
NM_024009.3
p.A233D
c.698C>A
1 paper
NM_024009.3
p.A233P
c.697G>C
1 paper
NM_024009.3
p.K244insFs
c.730_731insG
2 papers
NM_024009.3
p.P229_S230insGC
c.685_689ins6
1 paper
NM_024009.3
p.S228R
c.684C>A
1 paper
NM_024009.3
p.A248delFs
c.744delT
1 paper
NM_024009.3
p.G226G
c.678T>C
1 paper
NM_024009.3
p.V251A
c.752T>C
1 paper
NM_024009.3
p.R224*
c.670C>T
1 paper
NM_024009.3
p.P223L
c.668C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."