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.L258_T264del0

c.773_790del18

Surrounding Variants

2 papers

NM_153006.3

p.I257I

c.771C>A

1 paper

NM_153006.3

p.I257T

c.770T>C

1 paper

NM_153006.3

p.P256P

c.768C>T

1 paper

NM_153006.3

p.C259F

c.776G>T

1 paper

NM_153006.3

p.P256L

c.767C>T

5 papers

NM_153006.3

p.P260L

c.779C>T

2 papers

NM_153006.3

p.I261V

c.781A>G

1 paper

NM_153006.3

p.S254R

c.762C>A

2 papers

NM_153006.3

p.S254S

c.762C>T

2 papers

NM_153006.3

p.I261N

c.782T>A

1 paper

NM_153006.3

p.I261T

c.782T>C

2 papers

NM_153006.3

p.I261I

c.783C>A