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

1 paper

NM_153006.3

p.I291L

c.871A>C

Surrounding Variants

2 papers

NM_153006.3

p.I291V

c.871A>G

5 papers

NM_153006.3

p.I291N

c.872T>A

1 paper

NM_153006.3

p.I290T

c.869T>C

2 papers

NM_153006.3

p.F292L

c.874T>C

1 paper

NM_153006.3

p.K289N

c.867A>C

1 paper

NM_153006.3

p.K289N

c.867A>T

1 paper

NM_153006.3

p.F292S

c.875T>C

2 papers

NM_153006.3

p.F292L

c.876C>A

2 papers

NM_153006.3

p.F292L

c.876C>G

2 papers

NM_153006.3

p.L293V

c.877C>G

2 papers

NM_153006.3

p.L293F

c.877C>T

1 paper

NM_153006.3

p.T288N

c.863C>A