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.D301G

c.902A>G

Surrounding Variants

2 papers

NM_153006.3

p.D301N

c.901G>A

2 papers

NM_153006.3

p.D301H

c.901G>C

2 papers

NM_153006.3

p.S302G

c.904A>G

2 papers

NM_153006.3

p.R300R

c.900C>T

2 papers

NM_153006.3

p.R300H

c.899G>A

2 papers

NM_153006.3

p.R300P

c.899G>C

2 papers

NM_153006.3

p.R300L

c.899G>T

1 paper

NM_153006.3

p.R300delFs

c.900delC

1 paper

NM_153006.3

p.S302R

c.906C>A

1 paper

NM_153006.3

p.S302R

c.906C>G

2 papers

NM_153006.3

p.S302S

c.906C>T

1 paper

NM_153006.3

p.R300C

c.898C>T