Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.W77R

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.W77R
c.229T>A
Surrounding Variants
2 papers
NM_005497.4
p.W77R
c.229T>C
7 papers
NM_005497.4
p.R75H
c.224G>A
1 paper
NM_005497.4
p.V74I
c.220G>A
1 paper
NM_005497.4
p.Q80*
c.238C>T
1 paper
NM_005497.4
p.H73R
c.218A>G
2 papers
NM_005497.4
p.L71L
c.213C>T
2 papers
NM_005497.4
p.V84L
c.250G>T
2 papers
NM_005497.4
p.V84L
c.250G>C
1 paper
NM_005497.4
p.V84M
c.250G>A
2 papers
NM_005497.4
p.P87S
c.259C>T
2 papers
NM_005497.4
p.P87A
c.259C>G
1 paper
NM_005497.4
p.D66E
c.198T>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."