rs3211371

This is a missense variant in the CYP2B6 gene.

Key Literature Trait Associations

Efavirenz Metabolism

CYP2B6*9 carries an R487C substitution that causes reduced CYP2B6 catalytic activity. Carriers metabolize efavirenz and methadone more slowly, which may lead to elevated drug levels and increased risk of adverse effects. This variant contributes to the wide inter-individual variability in CYP2B6 substrate metabolism observed across populations.

Wackernah RC et al. “Alcohol use disorder: pathophysiology, effects, and pharmacologic options for treatment.” Substance Abuse and Rehabilitation 5:1 (2014)
Allele T
OR —
p —
Candidate gene study
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Research that mentions this SNP (2)

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Effects of CYP2B6 genetic polymorphisms in patients receiving cyclophosphamide combination chemotherapy for breast cancer
AssociationN=145Haroun F. et al.(2015)· Cancer Chemotherapy and Pharmacology

This pharmacogenetic study examined three CYP2B6 polymorphisms (rs2279343, rs3211371, rs3745274) in 145 Lebanese breast cancer patients receiving cyclophosphamide (CP) chemotherapy. While no significant associations were found with hematological toxicity, homozygous CYP2B6 variant haplotypes were associated with significantly shorter time-to-recurrence in a subset of 38 patients with relapsed disease. However, results were limited by small sample size (only 3 homozygous mutant patients) and the authors concluded current evidence is insufficient to justify routine CYP2B6 genotyping for CP dosing or toxicity prediction.

Traits studied:Breast cancer chemotherapy toxicityCyclophosphamide efficacyCyclophosphamide-associated myelotoxicityDisease recurrenceHematological toxicity
PubMedDOIMetascience Observatory
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Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and Genotype
AssociationN=1,000Bhagwat Prasad et al.(2013)· Journal of Pharmaceutical Sciences

Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.

Traits studied:Drug-resistant epilepsyDrug-responsive epilepsyEpilepsyImatinib response in chronic myelogenous leukemiaPraziquantel responseTacrolimus metabolism
PubMedDOIMetascience Observatory

Gene information from NCBI Gene. Variant classifications from ClinVar.

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