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.N479T

c.1436A>C

Surrounding Variants

2 papers

NM_153006.3

p.T478T

c.1434C>G

2 papers

NM_153006.3

p.P480A

c.1438C>G

2 papers

NM_153006.3

p.P480R

c.1439C>G

2 papers

NM_153006.3

p.T478P

c.1432A>C

1 paper

NM_153006.3

p.T478A

c.1432A>G

1 paper

NM_153006.3

p.I481fs

c.1441_1442fs

1 paper

NM_153006.3

p.I481I

c.1443C>T

2 papers

NM_153006.3

p.R476Q

c.1427G>A

2 papers

NM_153006.3

p.R476P

c.1427G>C

1 paper

NM_153006.3

p.R476L

c.1427G>T

2 papers

NM_153006.3

p.N482K

c.1446T>A

2 papers

NM_153006.3

p.N482N

c.1446T>C