Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.L34P

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
27 papers
NM_024009.3
p.L34P
c.101T>C
Surrounding Variants
1 paper
NM_024009.3
p.L34_V35insG
c.100_104ins3
2 papers
NM_024009.3
p.L34L
c.100C>T
3 papers
NM_024009.3
p.R32L
c.95G>T
1 paper
NM_024009.3
p.V37insFs
c.109dupG
33 papers
NM_024009.3
p.R32W
c.94C>T
1 paper
NM_024009.3
p.F31L
c.93C>A
1 paper
NM_024009.3
p.F31L
c.93C>G
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
4 papers
NM_024009.3
p.V37E
c.110T>A
1 paper
NM_024009.3
p.R32delFs
c.94delC
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