Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.I140T

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.I140T
c.419T>C
Surrounding Variants
1 paper
NM_024009.3
p.I140I
c.420C>T
3 papers
NM_024009.3
p.I141del1
c.421_423delATT
16 papers
NM_024009.3
p.I141V
c.421A>G
1 paper
NM_024009.3
p.I141T
c.422T>C
1 paper
NM_024009.3
p.L139R
c.416T>G
31 papers
NM_024009.3
p.F137L
c.411C>A
31 papers
NM_024009.3
p.F137L
c.411C>G
32 papers
NM_024009.3
p.F137L
c.409T>C
1 paper
NM_024009.3
p.I136N
c.407T>A
1 paper
NM_024009.3
p.F145delFs
c.434delT
1 paper
NM_024009.3
p.L135P
c.404T>C
8 papers
NM_024009.3
p.L135V
c.403C>G
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