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.G297C

c.889G>T

Surrounding Variants

1 paper

NM_153006.3

p.G297V

c.890G>T

2 papers

NM_153006.3

p.G297G

c.891C>T

2 papers

NM_153006.3

p.T296A

c.886A>G

2 papers

NM_153006.3

p.G298S

c.892G>A

2 papers

NM_153006.3

p.G298A

c.893G>C

2 papers

NM_153006.3

p.G298G

c.894C>T

2 papers

NM_153006.3

p.N295H

c.883A>C

1 paper

NM_153006.3

p.N295D

c.883A>G

2 papers

NM_153006.3

p.L299M

c.895C>A

1 paper

NM_153006.3

p.L299L

c.895C>T

2 papers

NM_153006.3

p.N294S

c.881A>G

2 papers

NM_153006.3

p.L299L

c.897G>A