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.S234Splc

c.702-40C>A

Surrounding Variants

1 paper

NM_153006.3

p.S234Splc

c.702-41G>A

1 paper

NM_153006.3

p.S234Splc

c.702-45G>C

1 paper

NM_153006.3

p.S234Splc

c.702-46G>A

1 paper

NM_153006.3

p.S234Splc

c.702-47C>T

1 paper

NM_153006.3

p.S234Splc

c.702-32G>A

1 paper

NM_153006.3

p.S234Splc

c.702-30G>A

1 paper

NM_153006.3

p.S234Splc

c.702-50G>C

1 paper

NM_153006.3

p.S234Splc

c.702-29C>A

1 paper

NM_153006.3

p.S234Splc

c.702-51C>T

1 paper

NM_153006.3

p.S234Splc

c.702-27C>G

1 paper

NM_153006.3

p.S234Splc

c.702-26T>A

1 paper

NM_153006.3

p.S234Splc

c.702-25C>T