Varaico: Literature-Extracted Genetic Variants

Gene:GLUL
Variant:p.L9*

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.L9*
c.26T>A
Surrounding Variants
1 paper
NM_001033044.4
p.G12V
c.35G>T
1 paper
NM_001033044.4
p.G12A
c.35G>C
3 papers
NM_001033044.4
p.G12D
c.35G>A
1 paper
NM_001033044.4
p.A5delFs
c.13delC
3 papers
NM_001033044.4
p.K14N
c.42G>T
4 papers
NM_001033044.4
p.K14N
c.42G>C
1 paper
NM_001033044.4
p.Q15_V16insFs
c.44_47dup4
2 papers
NM_001033044.4
p.M1I
c.3G>A
1 paper
NM_001033044.4
p.M1K
c.2T>A
2 papers
NM_001033044.4
p.M1L
c.1A>T
3 papers
NM_001033044.4
p.M1V
c.1A>G
2 papers
NM_001033044.4
p.M1L
c.1A>C
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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."