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.E513*

c.1537G>T

Surrounding Variants

1 paper

NM_153006.3

p.Y512*

c.1536T>A

1 paper

NM_153006.3

p.Y512*

c.1536T>G

2 papers

NM_153006.3

p.Y512insFs

c.1536dupT

7 papers

NM_153006.3

p.Y512C

c.1535A>G

1 paper

NM_153006.3

p.L514S

c.1541T>C

1 paper

NM_153006.3

p.S511F

c.1532C>T

2 papers

NM_153006.3

p.N516S

c.1547A>G

1 paper

NM_153006.3

p.R509R

c.1527G>T

2 papers

NM_153006.3

p.N516K

c.1548C>A

1 paper

NM_153006.3

p.N516K

c.1548C>G

10 papers

NM_153006.3

p.R509Q

c.1526G>A

2 papers

NM_153006.3

p.R509W

c.1525C>T