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.S234Splc

c.701+19C>G

Surrounding Variants

1 paper

NM_153006.3

p.S234Splc

c.701+20G>A

1 paper

NM_153006.3

p.S234Splc

c.701+17C>T

1 paper

NM_153006.3

p.S234Splc

c.701+10C>T

1 paper

NM_153006.3

p.S234Splc

c.701+28G>A

1 paper

NM_153006.3

p.S234Splc

c.701+30C>T

1 paper

NM_153006.3

p.S234Splc

c.701+35G>C

1 paper

NM_153006.3

p.S234Splc

c.701+36A>G

1 paper

NM_153006.3

p.S234Splc

c.701+2T>C

2 papers

NM_153006.3

p.S234R

c.702C>A

2 papers

NM_153006.3

p.S234R

c.702C>G

1 paper

NM_153006.3

p.S234Splc

c.701+1G>A

1 paper

NM_153006.3

p.S234Splc

c.701+38C>A