Important Variant Information for NQO1
Submitted by: Sharon Marsh, Derek J Van Booven, Howard L McLeod (CREATE)
Reviewed by: Under Review
Submitted date: April 14th, 2008
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- NQO1 Overview
- All Annotated Genes
There is One Important Variant for NQO1.
| Gene HGNC Name: | NQO1 |
|---|---|
| Variant Summary: | 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 [11821413]. NQO1 stabilizes p53 [11867746], and individuals with the NQO1*2 variant do not have this important mechanism. The frequency of NQO1 is ~32% in Caucasians [12370763] |
| Key PubMed IDs: | 11821413 11867746 12370763 |
| 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 |
| dbSNP rs#: | rs1800566 |
| GoldenPath Position: | chr16:68302646 on hg18 |
| Key Drugs/Substrates: | Dicumarol [12590933] Benzene [15935810], cisplatin [12370763], doxorubicin [9333325 10954045] |
| Key Phenotypes/Diseases: | Leukemia risk [15935810], lung cancer risk [16170238] |
| Phenotype Data Sets: | Maximal CBR1 and NQO1 activities in liver cytosis , Risk of therapy-related acute myeloid leukemia |