Annotation Detail

Information
Associated Genes
CYP2B6
Associated Variants
CYP2B6 MUTATION
CYP2B6 MUTATION
CYP2B6 p.Gln172= (p.Q172=) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172His (p.Q172H) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172= (p.Q172=) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172His (p.Q172H) ( ENST00000324071.10, ENST00000593831.1 )
Associated Disease
HIV Infections
Source Database
DisGeNET
Description
HIV-infected patients with or without TB who had received combination antiretroviral therapy containing efavirenz (600 mg daily) for two weeks or greater were enrolled for determinations of CYP2B6 G516T polymorphism and plasma efavirenz concentrations with the use of polymerase-chain-reaction restriction fragment-length polymorphism and high-performance liquid chromatography, respectively.
Pubmed
24551111
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0861357593244372
Year of publication
2014
Drugs