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.V270L

c.808G>T

Surrounding Variants

2 papers

NM_153006.3

p.V270L

c.808G>C

2 papers

NM_153006.3

p.S269S

c.807C>T

1 paper

NM_153006.3

p.V270E

c.809T>A

1 paper

NM_153006.3

p.S269F

c.806C>T

2 papers

NM_153006.3

p.V270V

c.810G>A

1 paper

NM_153006.3

p.L271R

c.812T>G

1 paper

NM_153006.3

p.L271_L272insFs

c.813_814insG

1 paper

NM_153006.3

p.R268S

c.802C>A

1 paper

NM_153006.3

p.R268insFs

c.803dupG

1 paper

NM_153006.3

p.L272F

c.814C>T

2 papers

NM_153006.3

p.R267R

c.801C>A

1 paper

NM_153006.3

p.R267R

c.801C>T