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.D244E

c.732C>A

Surrounding Variants

1 paper

NM_153006.3

p.D244delFs

c.732delC

1 paper

NM_153006.3

p.D244fs

c.730_731fs

1 paper

NM_153006.3

p.L246L

c.736C>T

2 papers

NM_153006.3

p.E242G

c.725A>G

2 papers

NM_153006.3

p.Q247*

c.739C>T

2 papers

NM_153006.3

p.E242K

c.724G>A

2 papers

NM_153006.3

p.V241V

c.723G>A

3 papers

NM_153006.3

p.V241A

c.722T>C

1 paper

NM_153006.3

p.V241M

c.721G>A

2 papers

NM_153006.3

p.V241L

c.721G>C

2 papers

NM_153006.3

p.V241L

c.721G>T

1 paper

NM_153006.3

p.W248*

c.744G>A