Annotation Detail
Information
- Associated Genes
- NAT2
- Associated Variants
-
NAT2 p.Arg197Gln (p.R197Q)
(
ENST00000286479.4,
ENST00000520116.1 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Arg197Gln (p.R197Q) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 ) - Associated Disease
- Slow acetylator due to N-acetyltransferase enzyme variant
- Source Database
- DisGeNET
- Description
- We analyzed three NAT2 genetic variations, c.481C>T, c.590G>A (p.R197Q) and c.857G>A (p.G286E), which are known to result in a slow acetylator phenotype.
- Pubmed
- 16571112
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0184580473014606
- Year of publication
- 2006
Drugs