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 8 annotations for this variant. Register or sign in to see them.
There are 2 disease-related annotations for this variant. Register or sign in to see them.
VIP Variant in NQO1
Note: The NQO1 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations and haplotypes may differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
The NQO1*2 variant causes the NQO1 protein to be rapidly degraded via the ubiquitin dependant pathway. The half life of NQO1*2 is ~1.2 hours, compared to 18 hours for wild-type NQO1 protein. The NQO1*2 variant is also in the active site of NQO1, leading to decreased NQO1 activity [Article:11821413].
NQO1 stabilizes p53 [Article:11867746], and individuals with the NQO1*2 variant do not have this important mechanism.
The frequency of NQO1 is ~32% in Caucasians [Article:12370763]
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (4)
|
| Diseases | Leukemia 6 Lung Neoplasms 7 |
| Phenotype Datasets |
Maximal CBR1 and NQO1 activities in liver cytosols Risk of therapy-related acute myeloid leukemia |
Appendix
1. NQO1*2
| Genomic Variant & GenBank ID: | 191C>T on M81600.1 |
|---|---|
| mRNA Variant & GenBank ID: | 750C>T on NM_000903 |
| Protein Variant & GenBank ID: | P187S on NP_000894 |
| GoldenPath Position: | chr16:68302646,] on hg18 |
Connected Drugs
| Evidence | Drug |
|---|---|
| 1-methyloxy-4-sulfone-benzene | |
| cisplatin | |
| cyclophosphamide | |
| dicumarol | |
| doxorubicin | |
| etoposide |
Connected Drug Classes
| Evidence | Drug Class |
|---|---|
| Variant Annotation | anthracyclines and related substances |
Connected Diseases
| Evidence | Disease |
|---|---|
| Breast Neoplasms | |
| Carcinoma, Non-Small-Cell Lung | |
| Heart Failure | |
| Leukemia | |
| Lung Neoplasms |
Publications related to rs1800566 at chr16:69745145: 10
Cross-References
- UCSC Golden Path:
- chr16:69745145
- dbSNP:
- rs1800566
- ALFRED:
- SI273167A
- HapMap:
- rs1800566
- JSNP:
- ssj0002669
- LS-SNP:
- rs1800566
Platform Availability
- Affymetrix
- Illumina