Varaico: Literature-Extracted Genetic Variants

NAGS

107 papers

RefSeq Summary

The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate...

Pfam Domains

AA_kinaseaa 113–327UCSCAmino acid kinase family

NATaa 356–521UCSCNAT, N-acetyltransferase, of N-acetylglutamate synthase

Gene Aliases

HGNC Name

N-acetylglutamate synthase

HGNC Alias Symbols

AGAS; ARGA; NAT7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_153006.3

p.G221E

c.662G>A

Surrounding Variants

2 papers

NM_153006.3

p.G221G

c.663G>A

1 paper

NM_153006.3

p.G221R

c.661G>C

1 paper

NM_153006.3

p.G221G

c.663G>C

2 papers

NM_153006.3

p.S222F

c.665C>T

1 paper

NM_153006.3

p.G220R

c.658G>C

1 paper

NM_153006.3

p.G220delFs

c.658delG

1 paper

NM_153006.3

p.G219S

c.655G>A

1 paper

NM_153006.3

p.L224V

c.670C>G

1 paper

NM_153006.3

p.L224L

c.670C>T

1 paper

NM_153006.3

p.L224P

c.671T>C

1 paper

NM_153006.3

p.F218fs

c.652_653fs

1 paper

NM_153006.3

p.R225S

c.673C>A