| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | Twenty-eight (82%) of these variants fell within the DNA-binding domain of TP53, with an enrichment for specific variants that were not previously identified as LFS mutation hotspots, such as the p.R290H and p.N235S variants. | 28861920 | 2017 |
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|
0.710 | GeneticVariation | UNIPROT | Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. | 10484981 | 1999 |
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|
0.710 | GeneticVariation | UNIPROT | A germline missense mutation R337C in exon 10 of the human p53 gene. | 9452042 | 1998 |
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|
0.710 | GeneticVariation | UNIPROT | An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. | 8825920 | 1995 |
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|
0.710 | GeneticVariation | UNIPROT | Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. | 7887414 | 1995 |
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|
0.710 | GeneticVariation | UNIPROT | Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. | 1565144 | 1992 |
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|
0.710 | GeneticVariation | UNIPROT | Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. | 1737852 | 1992 |
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|
0.710 | GeneticVariation | UNIPROT | A germ line mutation in exon 5 of the p53 gene in an extended cancer family. | 1933902 | 1991 |
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|
0.710 | GeneticVariation | UNIPROT | Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. | 2259385 | 1991 |
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|
0.710 | GeneticVariation | UNIPROT | Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. | 1978757 | 1990 |