Varaico: Literature-Extracted Genetic Variants

Gene:GLUL
Variant:p.R106*

GLUL

226 papers

RefSeq Summary

The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role ...

Pfam Domains

Gln-synt_Naa 24–104UCSCGlutamine synthetase, beta-Grasp domain
Gln-synt_Caa 110–361UCSCGlutamine synthetase, catalytic domain

Gene Aliases

HGNC Name

glutamate-ammonia ligase

HGNC Previous Symbol

GLNS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001033044.4
p.R106*
c.316C>T
Surrounding Variants
1 paper
NM_001033044.4
p.P108R
c.323C>G
1 paper
NM_001033044.4
p.A109T
c.325G>A
1 paper
NM_001033044.4
p.E100G
c.299A>G
1 paper
NM_001033044.4
p.E100A
c.299A>C
1 paper
NM_001033044.4
p.V97V
c.291G>A
1 paper
NM_001033044.4
p.V97M
c.289G>A
1 paper
NM_001033044.4
p.R90C
c.268C>T
1 paper
NM_001033044.4
p.F89insFs
c.265_266insT
1 paper
NM_001033044.4
p.F89insFs
c.265_266insG
1 paper
NM_001033044.4
p.P88L
c.263C>T
1 paper
NM_001033044.4
p.P88S
c.262C>T
1 paper
NM_001033044.4
p.D87G
c.260A>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."