Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.E183K

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
66 papers
NM_024009.3
p.E183K
c.547G>A
Surrounding Variants
1 paper
NM_024009.3
p.E183*
c.547G>T
2 papers
NM_024009.3
p.T182T
c.546C>G
1 paper
NM_024009.3
p.T182T
c.546C>T
1 paper
NM_024009.3
p.K184delFs
c.550delA
1 paper
NM_024009.3
p.P181R
c.542C>G
1 paper
NM_024009.3
p.R180Q
c.539G>A
1 paper
NM_024009.3
p.R180G
c.538C>G
131 papers
NM_024009.3
p.R180*
c.538C>T
10 papers
NM_024009.3
p.Y177D
c.529T>G
1 paper
NM_024009.3
p.C176_M191del16
c.526_572del48
1 paper
NM_024009.3
p.F190C
c.569T>G
15 papers
NM_024009.3
p.V174M
c.520G>A
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