Clinical Annotations
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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 6 annotations for this variant. Register or sign in to see them.
VIP Variant in CYP2B6
This variant is found alone as the CYP2B6*4 allele and is also found in combination with other variants in several other haplotypes, including the important CYP2B6*6 haplotype. It is found at high frequencies in all major ethnic groups, ranging from 15% in Asians to almost 50% in Black and African Americans [Article:16272958, 17235330]. This variant has been associated with higher protein expression in COS-1 cells and demethylation catalytic activity with the substrate 4-trifluoromethylcoumarin when expressed as part of the *4, *6 and *7 alleles [Article:12642465]. When expressed in yeast, there was no effect on bupropion metabolism, but it was expressed at higher levels [Article:16495778]. Wang et al. observed that when expressed in combination with other variants such as the CYP2B6*16 allele (consisting of both Ile328Thr and Lys262Arg) in yeast or HEK-293 cells, the Lys262Arg variant partially rescued the very low expression of protein seen with the Ile328Thr (983T>C) variant alone [Article:16495778]. For further discussion of the impact of this variant see the haplotype description for CYP2B6*6.
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Chemical (1)
4-trifluoromethylcoumarin
|
Appendix
| mRNA Variant & GenBank ID: | 792A>G on NM_000767.4 |
|---|---|
| Protein Variant & GenBank ID: | Lys262Arg on NP_000758.1 |
| DNA Source Containing Homozygous Reference Allele (Coriell Lines): | AA Sample PA151668150 |
| DNA Source Containing Heterozygous Reference Allele (Coriell Lines): | AG Sample PA151668149 |
| DNA Source Containing Homozygous Minor Allele (Coriell Lines): | GG Sample PA151668160 |
Connected Drugs
Connected Diseases
| Evidence | Disease |
|---|---|
| Heroin Dependence | |
| HIV | |
| Tobacco Use Disorder | |
| Transplantation |
Publications related to rs2279343 at chr19:41515263: 10
Cross-References
- UCSC Golden Path:
- chr19:41515263
- dbSNP:
- rs2279343
- JSNP:
- IMS-JST026996