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.K170insFs

c.508dupA

Surrounding Variants

4 papers

NM_153006.3

p.M169L

c.505A>C

4 papers

NM_153006.3

p.M169L

c.505A>T

2 papers

NM_153006.3

p.D168D

c.504C>T

1 paper

NM_153006.3

p.D168_M169delins

c.504_505delinsTT

1 paper

NM_153006.3

p.K170K

c.510G>A

1 paper

NM_153006.3

p.D168A

c.503A>C

1 paper

NM_153006.3

p.D168G

c.503A>G

2 papers

NM_153006.3

p.D168N

c.502G>A

1 paper

NM_153006.3

p.P171P

c.513G>A

1 paper

NM_153006.3

p.P171P

c.513G>T

6 papers

NM_153006.3

p.M167V

c.499A>G

1 paper

NM_153006.3

p.L172Q

c.515T>A