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.F503S

c.1508T>C

Surrounding Variants

1 paper

NM_153006.3

p.F501L

c.1503C>A

1 paper

NM_153006.3

p.L505M

c.1513C>A

1 paper

NM_153006.3

p.F501L

c.1503C>G

2 papers

NM_153006.3

p.L505R

c.1514T>G

1 paper

NM_153006.3

p.L505L

c.1515G>C

1 paper

NM_153006.3

p.F501L

c.1501T>C

2 papers

NM_153006.3

p.F500L

c.1500C>A

2 papers

NM_153006.3

p.F500L

c.1500C>G

2 papers

NM_153006.3

p.F500L

c.1498T>C

1 paper

NM_153006.3

p.I499M

c.1497C>G

2 papers

NM_153006.3

p.I499I

c.1497C>T

1 paper

NM_153006.3

p.D507Y

c.1519G>T