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.R334Q

c.1001G>A

Surrounding Variants

2 papers

NM_153006.3

p.R334R

c.1000C>A

3 papers

NM_153006.3

p.L335F

c.1003C>T

1 paper

NM_153006.3

p.M333V

c.997A>G

1 paper

NM_153006.3

p.Q332_M333ins5

c.994_998ins15

1 paper

NM_153006.3

p.V337M

c.1009G>A

2 papers

NM_153006.3

p.V337L

c.1009G>C

2 papers

NM_153006.3

p.V337L

c.1009G>T

2 papers

NM_153006.3

p.V337A

c.1010T>C

5 papers

NM_153006.3

p.Q331*

c.991C>T

2 papers

NM_153006.3

p.R330P

c.989G>C

1 paper

NM_153006.3

p.R330_Q331insA

c.988_992ins3

1 paper

NM_153006.3

p.R330G

c.988C>G