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.G366Splc

c.1096+14G>C

Surrounding Variants

1 paper

NM_153006.3

p.G366Splc

c.1096+12G>A

1 paper

NM_153006.3

p.G366Splc

c.1096+16G>C

1 paper

NM_153006.3

p.G366Splc

c.1096+19C>T

1 paper

NM_153006.3

p.G366Splc

c.1096+9G>A

1 paper

NM_153006.3

p.G366Splc

c.1096+20C>G

1 paper

NM_153006.3

p.G366Splc

c.1096+8C>T

1 paper

NM_153006.3

p.G366Splc

c.1096+6G>A

1 paper

NM_153006.3

p.G366Splc

c.1096+5G>A

1 paper

NM_153006.3

p.G366Splc

c.1096+2T>G

1 paper

NM_153006.3

p.G366R

c.1096G>C

2 papers

NM_153006.3

p.N364K

c.1092C>A

2 papers

NM_153006.3

p.N364K

c.1092C>G