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.P180T

c.538C>A

Surrounding Variants

1 paper

NM_153006.3

p.P180A

c.538C>G

1 paper

NM_153006.3

p.A179A

c.537C>G

2 papers

NM_153006.3

p.A179A

c.537C>T

2 papers

NM_153006.3

p.P180L

c.539C>T

2 papers

NM_153006.3

p.A179V

c.536C>T

4 papers

NM_153006.3

p.T181A

c.541A>G

1 paper

NM_153006.3

p.A182delFs

c.544delG

2 papers

NM_153006.3

p.P178P

c.534G>A

2 papers

NM_153006.3

p.P178L

c.533C>T

1 paper

NM_153006.3

p.T181T

c.543G>A

2 papers

NM_153006.3

p.T181T

c.543G>C

2 papers

NM_153006.3

p.P178S

c.532C>T