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.R451C

c.1351C>T

Surrounding Variants

2 papers

NM_153006.3

p.R451H

c.1352G>A

1 paper

NM_153006.3

p.S450Fs

c.1349delinsATFs

1 paper

NM_153006.3

p.S450G

c.1348A>G

1 paper

NM_153006.3

p.S449T

c.1345T>A

1 paper

NM_153006.3

p.G453D

c.1358G>A

2 papers

NM_153006.3

p.S448N

c.1343G>A

2 papers

NM_153006.3

p.S448T

c.1343G>C

1 paper

NM_153006.3

p.Q454delFs

c.1361delA

2 papers

NM_153006.3

p.Q454Q

c.1362A>G

1 paper

NM_153006.3

p.G455delFs

c.1363delG

1 paper

NM_153006.3

p.V447E

c.1340T>A

2 papers

NM_153006.3

p.V447G

c.1340T>G