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.W484Splc

c.1451+6T>C

Surrounding Variants

5 papers

NM_153006.3

p.W484Splc

c.1451+5G>A

1 paper

NM_153006.3

p.W484Splc

c.1451+9T>C

1 paper

NM_153006.3

p.W484Splc

c.1451+10G>A

16 papers

NM_153006.3

p.W484R

c.1450T>A

17 papers

NM_153006.3

p.W484R

c.1450T>C

1 paper

NM_153006.3

p.W484Splc

c.1451+14C>T

2 papers

NM_153006.3

p.N482K

c.1446T>A

2 papers

NM_153006.3

p.N482N

c.1446T>C

2 papers

NM_153006.3

p.N482K

c.1446T>G

1 paper

NM_153006.3

p.I481I

c.1443C>T

1 paper

NM_153006.3

p.W484Splc

c.1451+20G>C

1 paper

NM_153006.3

p.W484Splc

c.1451+21C>T