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

4 papers

NM_153006.3

p.H488_S489delFs

c.1464_1465delCA

Surrounding Variants

2 papers

NM_153006.3

p.K487K

c.1461A>G

4 papers

NM_153006.3

p.H488fs

c.1462_1463fs

1 paper

NM_153006.3

p.Y485F

c.1454A>T

1 paper

NM_153006.3

p.D490G

c.1469A>G

1 paper

NM_153006.3

p.W484Splc

c.1452-1G>T

1 paper

NM_153006.3

p.D490D

c.1470T>C

1 paper

NM_153006.3

p.W484Splc

c.1452-4C>G

1 paper

NM_153006.3

p.G491D

c.1472G>A

2 papers

NM_153006.3

p.G491G

c.1473C>T

1 paper

NM_153006.3

p.S492R

c.1474A>C

1 paper

NM_153006.3

p.W484Splc

c.1452-7C>A

1 paper

NM_153006.3

p.W484Splc

c.1452-7C>T