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.H346fs

c.1036_1037fs

Surrounding Variants

1 paper

NM_153006.3

p.H346insFs

c.1036_1037insT

3 papers

NM_153006.3

p.H346fs

c.1036_1037fs

7 papers

NM_153006.3

p.H346insFs

c.1036_1037insC

2 papers

NM_153006.3

p.H345R

c.1034A>G

2 papers

NM_153006.3

p.H346H

c.1038C>T

2 papers

NM_153006.3

p.S347A

c.1039T>G

2 papers

NM_153006.3

p.P344P

c.1032C>A

1 paper

NM_153006.3

p.P344P

c.1032C>G

2 papers

NM_153006.3

p.S347F

c.1040C>T

2 papers

NM_153006.3

p.S348S

c.1044G>C

2 papers

NM_153006.3

p.A349A

c.1047C>T

1 paper

NM_153006.3

p.R342fs

c.1024_1025fs