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

9 papers

NM_153006.3

p.L312P

c.935T>C

Surrounding Variants

2 papers

NM_153006.3

p.L312L

c.936G>A

2 papers

NM_153006.3

p.P313P

c.939C>T

2 papers

NM_153006.3

p.A314T

c.940G>A

1 paper

NM_153006.3

p.V310V

c.930G>A

1 paper

NM_153006.3

p.A314V

c.941C>T

4 papers

NM_153006.3

p.V310A

c.929T>C

2 papers

NM_153006.3

p.A314A

c.942C>T

2 papers

NM_153006.3

p.V310M

c.928G>A

2 papers

NM_153006.3

p.N309K

c.927C>A

2 papers

NM_153006.3

p.N309K

c.927C>G

2 papers

NM_153006.3

p.D315N

c.943G>A

1 paper

NM_153006.3

p.D315Y

c.943G>T