Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.E99K

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
2 papers
NM_024009.3
p.E99K
c.295G>A
Surrounding Variants
5 papers
NM_024009.3
p.R98H
c.293G>A
1 paper
NM_024009.3
p.E100delFs
c.299_300delAG
2 papers
NM_024009.3
p.R98C
c.292C>T
9 papers
NM_024009.3
p.E100K
c.298G>A
1 paper
NM_024009.3
p.Y97_R98insFs
c.291_292insA
1 paper
NM_024009.3
p.E100D
c.300G>C
1 paper
NM_024009.3
p.E100D
c.300G>T
2 papers
NM_024009.3
p.R101W
c.301C>T
6 papers
NM_024009.3
p.R101Q
c.302G>A
1 paper
NM_024009.3
p.A96T
c.286G>A
1 paper
NM_024009.3
p.A96S
c.286G>T
6 papers
NM_024009.3
p.V95V
c.285G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."