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.A265A

c.795C>T

Surrounding Variants

1 paper

NM_153006.3

p.A265V

c.794C>T

2 papers

NM_153006.3

p.A266T

c.796G>A

2 papers

NM_153006.3

p.A266P

c.796G>C

1 paper

NM_153006.3

p.A266V

c.797C>T

2 papers

NM_153006.3

p.A265T

c.793G>A

2 papers

NM_153006.3

p.A266A

c.798G>A

1 paper

NM_153006.3

p.T264T

c.792G>A

2 papers

NM_153006.3

p.R267S

c.799C>A

1 paper

NM_153006.3

p.T264K

c.791C>A

6 papers

NM_153006.3

p.T264M

c.791C>T

1 paper

NM_153006.3

p.T264A

c.790A>G

2 papers

NM_153006.3

p.R267R

c.801C>A