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.F217L

c.651T>G

Surrounding Variants

2 papers

NM_153006.3

p.F217L

c.651T>A

1 paper

NM_153006.3

p.F218fs

c.652_653fs

2 papers

NM_153006.3

p.F217L

c.649T>C

1 paper

NM_153006.3

p.F217V

c.649T>G

1 paper

NM_153006.3

p.F218insFs

c.654dupT

2 papers

NM_153006.3

p.F217delFs

c.649delT

1 paper

NM_153006.3

p.P216insFs

c.648dupA

1 paper

NM_153006.3

p.G219S

c.655G>A

1 paper

NM_153006.3

p.P216A

c.646C>G

1 paper

NM_153006.3

p.G220delFs

c.658delG

2 papers

NM_153006.3

p.V215V

c.645G>T

1 paper

NM_153006.3

p.G220R

c.658G>C