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.A227A

c.681C>T

Surrounding Variants

1 paper

NM_153006.3

p.A227A

c.681C>G

2 papers

NM_153006.3

p.E228K

c.682G>A

2 papers

NM_153006.3

p.P229R

c.686C>G

1 paper

NM_153006.3

p.A226S

c.676G>T

2 papers

NM_153006.3

p.R225R

c.675C>A

2 papers

NM_153006.3

p.A230T

c.688G>A

2 papers

NM_153006.3

p.A230S

c.688G>T

1 paper

NM_153006.3

p.R225S

c.673C>A

2 papers

NM_153006.3

p.R225C

c.673C>T

1 paper

NM_153006.3

p.L224P

c.671T>C

1 paper

NM_153006.3

p.L224V

c.670C>G

1 paper

NM_153006.3

p.L224L

c.670C>T