Variant:
rs12721655 at chr19:41510282 in CYP2A7P1, CYP2B6

Alleles (on + chromosomal strand)
A > G
Amino Acid Translation
Lys139Glu
Alternate Names:
CYP2B6: 415A>G, K139E, c.415A>G, g.13778500A>G, g.18079A>G, g.206456A>G, p.Lys139Glu
Haplotypes
This variant is used to determine: CYP2B6*8

Variant Annotations

PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

There are 3 annotations for this variant. Register or sign in to see them.

Connected Drugs

Connected Diseases

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Breast Neoplasms

Publications related to rs12721655 at chr19:41510282: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Polymorphic variants of cytochrome P450 2B6 (CYP2B6.4-CYP2B6.9) exhibit altered rates of metabolism for bupropion and efavirenz: a charge-reversal mutation in the K139E variant (CYP2B6.8) impairs formation of a functional cytochrome p450-reductase complex. The Journal of pharmacology and experimental therapeutics. 2011. Zhang Haoming, et al. [Article:21659470@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Influence of pharmacogenetics on response and toxicity in breast cancer patients treated with doxorubicin and cyclophosphamide. British journal of cancer. 2010. Bray J, et al. [Article:20179710@PubMed]

Cross-References

UCSC Golden Path:
chr19:41510282
dbSNP:
rs12721655

Platform Availability

  • Illumina

Common Searches

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