Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.A39P

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.A39P
c.115G>C
Surrounding Variants
1 paper
NM_024009.3
p.A39V
c.116C>T
2 papers
NM_024009.3
p.A40E
c.119C>A
1 paper
NM_024009.3
p.A40G
c.119C>G
8 papers
NM_024009.3
p.A40V
c.119C>T
4 papers
NM_024009.3
p.V37E
c.110T>A
15 papers
NM_024009.3
p.V37M
c.109G>A
1 paper
NM_024009.3
p.V37L
c.109G>C
2 papers
NM_024009.3
p.V37L
c.109G>T
1 paper
NM_024009.3
p.E41delFs
c.122delA
1 paper
NM_024009.3
p.E41delFs
c.123delG
1 paper
NM_024009.3
p.V37insFs
c.109dupG
1 paper
NM_024009.3
p.E41D
c.123G>C
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