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.C150Y

c.449G>A

Surrounding Variants

2 papers

NM_153006.3

p.C150C

c.450C>T

2 papers

NM_153006.3

p.Q151P

c.452A>C

1 paper

NM_153006.3

p.Q151R

c.452A>G

1 paper

NM_153006.3

p.Q151H

c.453G>C

1 paper

NM_153006.3

p.Q151H

c.453G>T

2 papers

NM_153006.3

p.G153delFs

c.458delG

3 papers

NM_153006.3

p.L148P

c.443T>C

1 paper

NM_153006.3

p.L148R

c.443T>G

1 paper

NM_153006.3

p.L148F

c.442C>T

1 paper

NM_153006.3

p.G153S

c.457G>A

2 papers

NM_153006.3

p.V147V

c.441G>T

1 paper

NM_153006.3

p.G153ins1

c.458_459insTTT