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.C320delFs

c.958delT

Surrounding Variants

2 papers

NM_153006.3

p.V319A

c.956T>C

2 papers

NM_153006.3

p.V319M

c.955G>A

1 paper

NM_153006.3

p.C320F

c.959G>T

1 paper

NM_153006.3

p.C320*

c.960C>A

1 paper

NM_153006.3

p.N321delFs

c.962delA

1 paper

NM_153006.3

p.N321insFs

c.961_962insG

2 papers

NM_153006.3

p.N321H

c.961A>C

1 paper

NM_153006.3

p.L318Q

c.953T>A

2 papers

NM_153006.3

p.N321I

c.962A>T

1 paper

NM_153006.3

p.D317G

c.950A>G

2 papers

NM_153006.3

p.A322V

c.965C>T

1 paper

NM_153006.3

p.D317N

c.949G>A