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.S199T

c.596G>C

Surrounding Variants

1 paper

NM_153006.3

p.S199R

c.595A>C

1 paper

NM_153006.3

p.S199G

c.595A>G

10 papers

NM_153006.3

p.C200R

c.598T>C

1 paper

NM_153006.3

p.K198M

c.593A>T

2 papers

NM_153006.3

p.C200C

c.600C>T

1 paper

NM_153006.3

p.A197A

c.591C>A

1 paper

NM_153006.3

p.A197T

c.589G>A

4 papers

NM_153006.3

p.K201N

c.603G>C

4 papers

NM_153006.3

p.K201N

c.603G>T

1 paper

NM_153006.3

p.A197S

c.589G>T

2 papers

NM_153006.3

p.V202M

c.604G>A

2 papers

NM_153006.3

p.L196M

c.586C>A