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.R166C

c.496C>T

Surrounding Variants

1 paper

NM_153006.3

p.R166H

c.497G>A

1 paper

NM_153006.3

p.Q165R

c.494A>G

6 papers

NM_153006.3

p.M167V

c.499A>G

1 paper

NM_153006.3

p.Q165*

c.493C>T

1 paper

NM_153006.3

p.L164S

c.491T>C

2 papers

NM_153006.3

p.D168N

c.502G>A

1 paper

NM_153006.3

p.L164L

c.490T>C

1 paper

NM_153006.3

p.D168A

c.503A>C

1 paper

NM_153006.3

p.D168G

c.503A>G

1 paper

NM_153006.3

p.F163F

c.489C>T

2 papers

NM_153006.3

p.D168D

c.504C>T

1 paper

NM_153006.3

p.D168_M169delins

c.504_505delinsTT