Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.F31L

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.F31L
c.91T>C
Surrounding Variants
1 paper
NM_024009.3
p.R32delFs
c.94delC
1 paper
NM_024009.3
p.F31L
c.93C>A
1 paper
NM_024009.3
p.F31L
c.93C>G
33 papers
NM_024009.3
p.R32W
c.94C>T
6 papers
NM_024009.3
p.V30I
c.88G>A
1 paper
NM_024009.3
p.F29F
c.87C>T
3 papers
NM_024009.3
p.R32L
c.95G>T
1 paper
NM_024009.3
p.V28_F29insFs
c.84_85insC
1 paper
NM_024009.3
p.L34_V35insG
c.100_104ins3
2 papers
NM_024009.3
p.L34L
c.100C>T
27 papers
NM_024009.3
p.L34P
c.101T>C
1 paper
NM_024009.3
p.V27A
c.80T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."