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.A206A

c.618G>C

Surrounding Variants

2 papers

NM_153006.3

p.A206A

c.618G>A

1 paper

NM_153006.3

p.A206S

c.616G>T

1 paper

NM_153006.3

p.D205G

c.614A>G

1 paper

NM_153006.3

p.D205V

c.614A>T

2 papers

NM_153006.3

p.R208R

c.622C>A

3 papers

NM_153006.3

p.R208*

c.622C>T

2 papers

NM_153006.3

p.V204V

c.612A>G

2 papers

NM_153006.3

p.V204A

c.611T>C

2 papers

NM_153006.3

p.H209P

c.626A>C

1 paper

NM_153006.3

p.V204I

c.610G>A

1 paper

NM_153006.3

p.N210H

c.628A>C

1 paper

NM_153006.3

p.N210N

c.630C>T