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.S524C

c.1571C>G

Surrounding Variants

2 papers

NM_153006.3

p.D523Y

c.1567G>T

1 paper

NM_153006.3

p.H526Y

c.1576C>T

2 papers

NM_153006.3

p.L521L

c.1563G>A

1 paper

NM_153006.3

p.K527T

c.1580A>C

2 papers

NM_153006.3

p.K527M

c.1580A>T

1 paper

NM_153006.3

p.L521V

c.1561C>G

1 paper

NM_153006.3

p.K527N

c.1581G>C

1 paper

NM_153006.3

p.K527N

c.1581G>T

2 papers

NM_153006.3

p.P528L

c.1583C>T

2 papers

NM_153006.3

p.G520E

c.1559G>A

2 papers

NM_153006.3

p.K519K

c.1557G>A

1 paper

NM_153006.3

p.K519N

c.1557G>C