Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | GeneticVariation | CLINVAR | High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. | 23894400 | 2013 |
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G | 0.700 | GeneticVariation | CLINVAR | Transactivation and reactivation capabilities of temperature-dependent p53 mutants in yeast and human cells. | 22710932 | 2012 |
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G | 0.700 | GeneticVariation | CLINVAR | Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. | 12826609 | 2003 |
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G | 0.700 | GeneticVariation | CLINVAR | Tumour p53 mutations exhibit promoter selective dominance over wild type p53. | 11896595 | 2002 |
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G | 0.700 | GeneticVariation | CLINVAR | p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. | 11429705 | 2001 |
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G | 0.700 | GeneticVariation | CLINVAR | Identification of a tumor-derived p53 mutant with novel transactivating selectivity. | 10871862 | 2000 |
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G | 0.700 | GeneticVariation | CLINVAR | Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. | 10229196 | 1999 |
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G | 0.700 | GeneticVariation | CLINVAR | A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect. | 9525742 | 1998 |
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G | 0.700 | GeneticVariation | CLINVAR | Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness. | 8080050 | 1994 |