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.N425S

c.1274A>G

Surrounding Variants

2 papers

NM_153006.3

p.N425N

c.1275C>T

2 papers

NM_153006.3

p.Y424*

c.1272C>A

2 papers

NM_153006.3

p.Y424*

c.1272C>G

1 paper

NM_153006.3

p.A426T

c.1276G>A

1 paper

NM_153006.3

p.A426V

c.1277C>T

1 paper

NM_153006.3

p.Y424N

c.1270T>A

2 papers

NM_153006.3

p.A427V

c.1280C>T

2 papers

NM_153006.3

p.G423Splc

c.1269-1G>C

2 papers

NM_153006.3

p.A427A

c.1281C>G

1 paper

NM_153006.3

p.A427A

c.1281C>T

1 paper

NM_153006.3

p.A428S

c.1282G>T

2 papers

NM_153006.3

p.A428V

c.1283C>T