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.K193N

c.579G>C

Surrounding Variants

2 papers

NM_153006.3

p.A194E

c.581C>A

1 paper

NM_153006.3

p.A192A

c.576C>G

2 papers

NM_153006.3

p.Q195*

c.583C>T

2 papers

NM_153006.3

p.E191E

c.573G>A

1 paper

NM_153006.3

p.E191D

c.573G>T

3 papers

NM_153006.3

p.E191G

c.572A>G

1 paper

NM_153006.3

p.E191V

c.572A>T

2 papers

NM_153006.3

p.L196M

c.586C>A

1 paper

NM_153006.3

p.E191K

c.571G>A

1 paper

NM_153006.3

p.W190*

c.570G>A

2 papers

NM_153006.3

p.W190C

c.570G>C

2 papers

NM_153006.3

p.W190C

c.570G>T