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

6 papers

NM_153006.3

p.W498*

c.1493G>A

Surrounding Variants

6 papers

NM_153006.3

p.W498*

c.1494G>A

2 papers

NM_153006.3

p.I499V

c.1495A>G

2 papers

NM_153006.3

p.F501del1

c.1501_1502delTTC

2 papers

NM_153006.3

p.Q497H

c.1491G>C

2 papers

NM_153006.3

p.Q497H

c.1491G>T

1 paper

NM_153006.3

p.I499M

c.1497C>G

2 papers

NM_153006.3

p.Q497*

c.1489C>T

2 papers

NM_153006.3

p.I499I

c.1497C>T

2 papers

NM_153006.3

p.F500L

c.1498T>C

1 paper

NM_153006.3

p.K496M

c.1487A>T

2 papers

NM_153006.3

p.K496*

c.1486A>T

2 papers

NM_153006.3

p.F500L

c.1500C>A