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.E142_V143Splc

c.427-34G>T

Surrounding Variants

1 paper

NM_153006.3

p.E142_V143Splc

c.427-35C>A

1 paper

NM_153006.3

p.E142_V143Splc

c.427-35C>T

1 paper

NM_153006.3

p.E142_V143Splc

c.427-39G>T

1 paper

NM_153006.3

p.E142_V143Splc

c.427-27G>A

1 paper

NM_153006.3

p.E142_V143Splc

c.427-26C>G

1 paper

NM_153006.3

p.E142_V143Splc

c.427-43C>T

1 paper

NM_153006.3

p.E142_V143Splc

c.427-46C>T

1 paper

NM_153006.3

p.E142_V143Splc

c.427-21T>C

1 paper

NM_153006.3

p.E142_V143Splc

c.427-50C>A

1 paper

NM_153006.3

p.E142_V143Splc

c.427-9C>T

1 paper

NM_153006.3

p.E142_V143Splc

c.427-4G>A

1 paper

NM_153006.3

p.E142_V143Splc

c.427-4G>T