Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.Q117R

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
Selected Variant
1 paper
NM_000165.5
p.Q117R
c.350A>G
Surrounding Variants
1 paper
NM_000165.5
p.A116V
c.347C>T
2 papers
NM_000165.5
p.A116T
c.346G>A
1 paper
NM_000165.5
p.A116P
c.346G>C
1 paper
NM_000165.5
p.D119A
c.356A>C
1 paper
NM_000165.5
p.V115A
c.344T>C
1 paper
NM_000165.5
p.K114R
c.341A>G
1 paper
NM_000165.5
p.V121D
c.362T>A
15 papers
NM_000165.5
p.L113P
c.338T>C
1 paper
NM_000165.5
p.V121A
c.362T>C
1 paper
NM_000165.5
p.N122_D124del3
c.364_371del9
1 paper
NM_000165.5
p.N122H
c.364A>C
1 paper
NM_000165.5
p.E112V
c.335A>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."