Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.D50A

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.D50A
c.149A>C
Surrounding Variants
10 papers
NM_024009.3
p.D50N
c.148G>A
4 papers
NM_024009.3
p.D50Y
c.148G>T
1 paper
NM_024009.3
p.K49del1
c.145_146delAAG
4 papers
NM_024009.3
p.E47D
c.141G>C
4 papers
NM_024009.3
p.E47D
c.141G>T
1 paper
NM_024009.3
p.C53R
c.157T>C
1 paper
NM_024009.3
p.C53F
c.158G>T
3 papers
NM_024009.3
p.E47K
c.139G>A
4 papers
NM_024009.3
p.E47*
c.139G>T
1 paper
NM_024009.3
p.N54H
c.160A>C
1 paper
NM_024009.3
p.N54I
c.161A>T
2 papers
NM_024009.3
p.N54K
c.162C>A
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