rs864622237, TP53

N. diseases: 17
Disease: Li-Fraumeni Syndrome ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR Transactivation and reactivation capabilities of temperature-dependent p53 mutants in yeast and human cells. 22710932 2012
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
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
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR Tumour p53 mutations exhibit promoter selective dominance over wild type p53. 11896595 2002
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. 11429705 2001
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR Identification of a tumor-derived p53 mutant with novel transactivating selectivity. 10871862 2000
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. 10229196 1999
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect. 9525742 1998
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness. 8080050 1994