Varaico: Literature-Extracted Genetic Variants

Gene:GJC1

GJC1

137 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 2–255UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein gamma 1

HGNC Previous Symbol

GJA7

Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
7 papers
NM_005497.4
p.R75H
c.224G>A
4 papers
NM_005497.4
p.M235L
c.703A>T
4 papers
NM_005497.4
p.M235L
c.703A>C
3 papers
NM_005497.4
p.V394I
c.1180G>A
2 papers
NM_005497.4
p.V27I
c.79G>A
2 papers
NM_005497.4
p.L71L
c.213C>T
2 papers
NM_005497.4
p.W77R
c.229T>C
2 papers
NM_005497.4
p.W77R
c.229T>A
2 papers
NM_005497.4
p.V84L
c.250G>T
2 papers
NM_005497.4
p.V84L
c.250G>C
2 papers
NM_005497.4
p.P87S
c.259C>T
2 papers
NM_005497.4
p.P87A
c.259C>G
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."