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.A518P

c.1552G>C

Surrounding Variants

10 papers

NM_153006.3

p.A518T

c.1552G>A

1 paper

NM_153006.3

p.A518D

c.1553C>A

2 papers

NM_153006.3

p.H517H

c.1551C>T

2 papers

NM_153006.3

p.A518A

c.1554C>G

2 papers

NM_153006.3

p.N516K

c.1548C>A

1 paper

NM_153006.3

p.N516K

c.1548C>G

2 papers

NM_153006.3

p.N516S

c.1547A>G

2 papers

NM_153006.3

p.K519K

c.1557G>A

1 paper

NM_153006.3

p.K519N

c.1557G>C

1 paper

NM_153006.3

p.K519N

c.1557G>T

2 papers

NM_153006.3

p.G520E

c.1559G>A

1 paper

NM_153006.3

p.L521V

c.1561C>G