Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.I199V

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.I199V
c.595A>G
Surrounding Variants
5 papers
NM_024009.3
p.V200I
c.598G>A
1 paper
NM_024009.3
p.C198_V200Fs
c.592_600delinsCAGTGTTCATGACATTCFs
6 papers
NM_024009.3
p.V197I
c.589G>A
1 paper
NM_024009.3
p.A196V
c.587C>T
5 papers
NM_024009.3
p.T202N
c.605C>A
3 papers
NM_024009.3
p.A196_C198del3
c.586_593del9
7 papers
NM_024009.3
p.I203T
c.608T>C
36 papers
NM_024009.3
p.A194T
c.580G>A
1 paper
NM_024009.3
p.G193_A194insFs
c.579_580ins4
1 paper
NM_024009.3
p.A194_A196del3
c.580_587del9
1 paper
NM_024009.3
p.G193insFs
c.578_579insG
1 paper
NM_024009.3
p.L206F
c.616C>T
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