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.K305_V306Splc

c.916-38G>A

Surrounding Variants

1 paper

NM_153006.3

p.K305_V306Splc

c.916-39C>T

1 paper

NM_153006.3

p.K305_V306Splc

c.916-37G>T

1 paper

NM_153006.3

p.K305_V306Splc

c.916-35T>C

1 paper

NM_153006.3

p.K305_V306Splc

c.916-43G>C

1 paper

NM_153006.3

p.K305_V306Splc

c.916-44C>T

1 paper

NM_153006.3

p.K305_V306Splc

c.916-30G>T

1 paper

NM_153006.3

p.K305_V306Splc

c.916-51G>T

1 paper

NM_153006.3

p.K305_V306Splc

c.916-53G>T

1 paper

NM_153006.3

p.K305_V306Splc

c.916-57T>C

1 paper

NM_153006.3

p.K305_V306Splc

c.916-60G>A

1 paper

NM_153006.3

p.K305_V306Splc

c.916-9C>T

1 paper

NM_153006.3

p.K305_V306Splc

c.916-70A>C