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

13 papers

NM_153006.3

p.W324*

c.971G>A

Surrounding Variants

12 papers

NM_153006.3

p.W324*

c.972G>A

2 papers

NM_153006.3

p.W324_V325insFs

c.972_975dup4

3 papers

NM_153006.3

p.E323K

c.967G>A

2 papers

NM_153006.3

p.V325V

c.975G>A

1 paper

NM_153006.3

p.S326R

c.976A>C

2 papers

NM_153006.3

p.A322V

c.965C>T

1 paper

NM_153006.3

p.S326R

c.978C>A

1 paper

NM_153006.3

p.S326R

c.978C>G

1 paper

NM_153006.3

p.S326S

c.978C>T

2 papers

NM_153006.3

p.N321I

c.962A>T

1 paper

NM_153006.3

p.N321insFs

c.961_962insG

2 papers

NM_153006.3

p.N321H

c.961A>C