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

1–12 of 1338 variants

17 papers

NM_153006.3

p.W484R

c.1450T>C

16 papers

NM_153006.3

p.W484R

c.1450T>A

13 papers

NM_153006.3

p.W324*

c.971G>A

12 papers

NM_153006.3

p.W324*

c.972G>A

11 papers

NM_153006.3

p.L442V

c.1324C>G

10 papers

NM_153006.3

p.V173E

c.518T>A

10 papers

NM_153006.3

p.C200R

c.598T>C

10 papers

NM_153006.3

p.L430P

c.1289T>C

10 papers

NM_153006.3

p.R509Q

c.1526G>A

10 papers

NM_153006.3

p.A518T

c.1552G>A

9 papers

NM_153006.3

p.K305_V306Splc

c.916-2A>T

9 papers

NM_153006.3

p.L312P

c.935T>C