Varaico: Literature-Extracted Genetic Variants

Gene:GLUL
Variant:p.R298*

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.R298*
c.892C>T
Surrounding Variants
1 paper
NM_001033044.4
p.R299fs
c.895_896fs
1 paper
NM_001033044.4
p.L300L
c.898C>T
1 paper
NM_001033044.4
p.T301A
c.901A>G
1 paper
NM_001033044.4
p.L294R
c.881T>G
1 paper
NM_001033044.4
p.G302E
c.905G>A
1 paper
NM_001033044.4
p.H304Y
c.910C>T
1 paper
NM_001033044.4
p.E305A
c.914A>C
1 paper
NM_001033044.4
p.Y288F
c.863A>T
1 paper
NM_001033044.4
p.R299_S307delFs
c.897_921del25
1 paper
NM_001033044.4
p.R286H
c.857G>A
1 paper
NM_001033044.4
p.R286C
c.856C>T
1 paper
NM_001033044.4
p.N310D
c.928A>G
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