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.S492R

c.1476C>G

Surrounding Variants

2 papers

NM_153006.3

p.S492R

c.1476C>A

1 paper

NM_153006.3

p.S492S

c.1476C>T

2 papers

NM_153006.3

p.F493L

c.1477T>C

1 paper

NM_153006.3

p.S492R

c.1474A>C

2 papers

NM_153006.3

p.F493L

c.1479C>A

2 papers

NM_153006.3

p.F493L

c.1479C>G

2 papers

NM_153006.3

p.G491G

c.1473C>T

2 papers

NM_153006.3

p.F493F

c.1479C>T

1 paper

NM_153006.3

p.G491D

c.1472G>A

2 papers

NM_153006.3

p.S494C

c.1481C>G

1 paper

NM_153006.3

p.S494F

c.1481C>T

1 paper

NM_153006.3

p.D490D

c.1470T>C