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.P171P

c.513G>A

Surrounding Variants

1 paper

NM_153006.3

p.P171P

c.513G>T

1 paper

NM_153006.3

p.L172Q

c.515T>A

1 paper

NM_153006.3

p.V173insFs

c.517dupG

1 paper

NM_153006.3

p.K170K

c.510G>A

1 paper

NM_153006.3

p.L172L

c.516G>T

1 paper

NM_153006.3

p.V173_V174del2

c.517_521del6

2 papers

NM_153006.3

p.V173L

c.517G>C

2 papers

NM_153006.3

p.V173L

c.517G>T

10 papers

NM_153006.3

p.V173E

c.518T>A

1 paper

NM_153006.3

p.V173A

c.518T>C

1 paper

NM_153006.3

p.K170insFs

c.508dupA

1 paper

NM_153006.3

p.V174L

c.520G>C