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.R267R

c.801C>T

Surrounding Variants

2 papers

NM_153006.3

p.R267R

c.801C>A

1 paper

NM_153006.3

p.R268S

c.802C>A

1 paper

NM_153006.3

p.R268insFs

c.803dupG

2 papers

NM_153006.3

p.R267S

c.799C>A

2 papers

NM_153006.3

p.A266A

c.798G>A

1 paper

NM_153006.3

p.A266V

c.797C>T

1 paper

NM_153006.3

p.S269F

c.806C>T

2 papers

NM_153006.3

p.A266T

c.796G>A

2 papers

NM_153006.3

p.A266P

c.796G>C

2 papers

NM_153006.3

p.A265A

c.795C>T

2 papers

NM_153006.3

p.S269S

c.807C>T

1 paper

NM_153006.3

p.A265V

c.794C>T