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.S456F

c.1367C>T

Surrounding Variants

2 papers

NM_153006.3

p.S456S

c.1368C>G

2 papers

NM_153006.3

p.S456_G457Fs

c.1368_1369delinsTFs

1 paper

NM_153006.3

p.G455G

c.1365C>A

2 papers

NM_153006.3

p.G457S

c.1369G>A

2 papers

NM_153006.3

p.G457fs

c.1369_1370fs

5 papers

NM_153006.3

p.G457D

c.1370G>A

1 paper

NM_153006.3

p.G457G

c.1371C>T

1 paper

NM_153006.3

p.G455S

c.1363G>A

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.Q454delFs

c.1361delA

1 paper

NM_153006.3

p.G453D

c.1358G>A