In silico and biological analyses of missense variants of the human biliary efflux transporter ABCC2: effects of novel rare missense variants.
Charlotte KölzFabienne Z GaugazNiklas HandinElke SchaeffelerRoman TremmelStefan WinterKathrin KleinUlrich M ZangerPer ArturssonMatthias SchwabAnne T NiesPublished in: British journal of pharmacology (2024)
In silico tools were unable to accurately predict the substrate-dependent increase in function of ABCC2 missense variants. In vitro biological studies are required to accurately determine functional activity to avoid misleading consequences for drug therapy.