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.P532L

c.1595C>T

Surrounding Variants

1 paper

NM_153006.3

p.P532T

c.1594C>A

2 papers

NM_153006.3

p.P532A

c.1594C>G

1 paper

NM_153006.3

p.P532S

c.1594C>T

2 papers

NM_153006.3

p.D531E

c.1593C>A

2 papers

NM_153006.3

p.D531E

c.1593C>G

2 papers

NM_153006.3

p.G533S

c.1597G>A

2 papers

NM_153006.3

p.G533D

c.1598G>A

2 papers

NM_153006.3

p.S530S

c.1590T>C

2 papers

NM_153006.3

p.S530C

c.1589C>G

2 papers

NM_153006.3

p.*535W

c.1605A>G

2 papers

NM_153006.3

p.P528L

c.1583C>T

1 paper

NM_153006.3

p.K527N

c.1581G>C