Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.R184G

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.R184G
c.550A>G
Surrounding Variants
1 paper
NM_005497.4
p.A183T
c.547G>A
1 paper
NM_005497.4
p.L181F
c.543G>T
1 paper
NM_005497.4
p.L181F
c.543G>C
1 paper
NM_005497.4
p.Q180*
c.538C>T
1 paper
NM_005497.4
p.Y177D
c.529T>G
1 paper
NM_005497.4
p.G172W
c.514G>T
1 paper
NM_005497.4
p.R167Q
c.500G>A
1 paper
NM_005497.4
p.R167W
c.499C>T
1 paper
NM_005497.4
p.H204P
c.611A>C
1 paper
NM_005497.4
p.P205Q
c.614C>A
1 paper
NM_005497.4
p.F206I
c.616T>A
1 paper
NM_005497.4
p.S156R
c.468C>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."