Varaico: Literature-Extracted Genetic Variants

Gene:GLUL
Variant:p.R324S

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
10 papers
NM_001033044.4
p.R324S
c.970C>A
Surrounding Variants
20 papers
NM_001033044.4
p.R324C
c.970C>T
1 paper
NM_001033044.4
p.I323V
c.967A>G
1 paper
NM_001033044.4
p.S322R
c.966C>G
1 paper
NM_001033044.4
p.S322R
c.966C>A
1 paper
NM_001033044.4
p.I325I
c.975T>A
1 paper
NM_001033044.4
p.S322R
c.964A>C
1 paper
NM_001033044.4
p.A321T
c.961G>A
1 paper
NM_001033044.4
p.R327W
c.979C>T
1 paper
NM_001033044.4
p.T328S
c.982A>T
1 paper
NM_001033044.4
p.T328S
c.983C>G
2 papers
NM_001033044.4
p.R319H
c.956G>A
1 paper
NM_001033044.4
p.V329I
c.985G>A
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