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.L430L

c.1290G>C

Surrounding Variants

10 papers

NM_153006.3

p.L430P

c.1289T>C

9 papers

NM_153006.3

p.T431I

c.1292C>T

1 paper

NM_153006.3

p.T431T

c.1293C>T

2 papers

NM_153006.3

p.M432V

c.1294A>G

2 papers

NM_153006.3

p.M432T

c.1295T>C

1 paper

NM_153006.3

p.I429_L430del2

c.1285_1289del6

2 papers

NM_153006.3

p.A428V

c.1283C>T

5 papers

NM_153006.3

p.E433G

c.1298A>G

1 paper

NM_153006.3

p.A428S

c.1282G>T

2 papers

NM_153006.3

p.A427A

c.1281C>G

1 paper

NM_153006.3

p.A427A

c.1281C>T

2 papers

NM_153006.3

p.E433E

c.1299G>A