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.D467insFs

c.1399_1400insC

Surrounding Variants

1 paper

NM_153006.3

p.D467fs

c.1399_1400fs

2 papers

NM_153006.3

p.D467Y

c.1399G>T

2 papers

NM_153006.3

p.R466R

c.1398G>A

2 papers

NM_153006.3

p.R466Q

c.1397G>A

3 papers

NM_153006.3

p.R465W

c.1393C>T

1 paper

NM_153006.3

p.Q469R

c.1406A>G

2 papers

NM_153006.3

p.L464L

c.1392G>A

1 paper

NM_153006.3

p.Q469Q

c.1407G>A

2 papers

NM_153006.3

p.L464Q

c.1391T>A

2 papers

NM_153006.3

p.L464L

c.1390C>T

1 paper

NM_153006.3

p.T470K

c.1409C>A

1 paper

NM_153006.3

p.L464insFs

c.1390dupC