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.D315V

c.944A>T

Surrounding Variants

1 paper

NM_153006.3

p.D315A

c.944A>C

1 paper

NM_153006.3

p.D315G

c.944A>G

2 papers

NM_153006.3

p.D315N

c.943G>A

1 paper

NM_153006.3

p.D315Y

c.943G>T

2 papers

NM_153006.3

p.A314A

c.942C>T

1 paper

NM_153006.3

p.L316L

c.946C>T

1 paper

NM_153006.3

p.A314V

c.941C>T

1 paper

NM_153006.3

p.L316P

c.947T>C

2 papers

NM_153006.3

p.A314T

c.940G>A

2 papers

NM_153006.3

p.L316L

c.948G>A

1 paper

NM_153006.3

p.L316L

c.948G>T

2 papers

NM_153006.3

p.P313P

c.939C>T