Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.V27I

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
Selected Variant
2 papers
NM_005497.4
p.V27I
c.79G>A
Surrounding Variants
1 paper
NM_005497.4
p.W24*
c.71G>A
1 paper
NM_005497.4
p.R32W
c.94C>T
1 paper
NM_005497.4
p.S17_G21delins
c.51_63delinsA
1 paper
NM_005497.4
p.G21R
c.61G>C
1 paper
NM_005497.4
p.G21R
c.61G>A
1 paper
NM_005497.4
p.I33M
c.99C>G
1 paper
NM_005497.4
p.V34A
c.101T>C
1 paper
NM_005497.4
p.T18I
c.53C>T
1 paper
NM_005497.4
p.A37T
c.109G>A
1 paper
NM_005497.4
p.N15H
c.43A>C
1 paper
NM_005497.4
p.H14R
c.41A>G
1 paper
NM_005497.4
p.E12D
c.36G>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."