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

2 papers

NM_153006.3

p.G437R

c.1309G>A

Surrounding Variants

2 papers

NM_153006.3

p.G437R

c.1309G>C

2 papers

NM_153006.3

p.L436L

c.1308G>T

1 paper

NM_153006.3

p.G437G

c.1311G>A

2 papers

NM_153006.3

p.G437G

c.1311G>T

1 paper

NM_153006.3

p.L436R

c.1307T>G

5 papers

NM_153006.3

p.G438insFs

c.1313dupG

4 papers

NM_153006.3

p.G438delFs

c.1313delG

1 paper

NM_153006.3

p.L436fs

c.1306_1307fs

8 papers

NM_153006.3

p.L436insFs

c.1306_1307insT

2 papers

NM_153006.3

p.L436V

c.1306C>G

1 paper

NM_153006.3

p.G438S

c.1312G>A

1 paper

NM_153006.3

p.G438R

c.1312G>C