Varaico: Literature-Extracted Genetic Variants

Gene:GLUL
Variant:p.Q69*

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
1 paper
NM_001033044.4
p.Q69*
c.205C>T
Surrounding Variants
1 paper
NM_001033044.4
p.S70A
c.208T>G
1 paper
NM_001033044.4
p.S70Y
c.209C>A
1 paper
NM_001033044.4
p.S66C
c.196A>T
1 paper
NM_001033044.4
p.S65S
c.195T>C
1 paper
NM_001033044.4
p.G72D
c.215G>A
1 paper
NM_001033044.4
p.N74Y
c.220A>T
1 paper
NM_001033044.4
p.N74K
c.222C>G
1 paper
NM_001033044.4
p.N74K
c.222C>A
1 paper
NM_001033044.4
p.F62F
c.186C>T
1 paper
NM_001033044.4
p.D76H
c.226G>C
1 paper
NM_001033044.4
p.D76N
c.226G>A
1 paper
NM_001033044.4
p.W60C
c.180G>T
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