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.W248*

c.744G>A

Surrounding Variants

1 paper

NM_153006.3

p.W248C

c.744G>C

1 paper

NM_153006.3

p.W248C

c.744G>T

1 paper

NM_153006.3

p.C249W

c.747C>G

2 papers

NM_153006.3

p.L250L

c.748C>T

1 paper

NM_153006.3

p.L250delFs

c.749delT

2 papers

NM_153006.3

p.Q247*

c.739C>T

1 paper

NM_153006.3

p.L250Q

c.749T>A

2 papers

NM_153006.3

p.E251K

c.751G>A

1 paper

NM_153006.3

p.E251Q

c.751G>C

1 paper

NM_153006.3

p.L246L

c.736C>T

2 papers

NM_153006.3

p.E251D

c.753G>C

2 papers

NM_153006.3

p.E251D

c.753G>T