Varaico: Literature-Extracted Genetic Variants

Gene:GJA1

GJA1

843 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 3–233UCSCConnexin
Connexin43aa 283–361UCSCGap junction alpha-1 protein (Cx43)

Gene Aliases

HGNC Name

gap junction protein alpha 1

HGNC Previous Symbols

ODDD; GJAL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 577 variants
89 papers
NM_000165.5
p.G138R
c.412G>C
74 papers
NM_000165.5
p.G60S
c.178G>A
60 papers
NM_000165.5
p.I130T
c.389T>C
49 papers
NM_000165.5
p.G21R
c.61G>C
48 papers
NM_000165.5
p.G21R
c.61G>A
47 papers
NM_000165.5
p.A40V
c.119C>T
45 papers
NM_000165.5
p.Y17S
c.50A>C
37 papers
NM_000165.5
p.G143S
c.427G>A
33 papers
NM_000165.5
p.L90V
c.268C>G
33 papers
NM_000165.5
p.R202H
c.605G>A
30 papers
NM_000165.5
p.V216L
c.646G>C
30 papers
NM_000165.5
p.V216L
c.646G>T
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."