Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR p53 DNA binding cooperativity is essential for apoptosis and tumor suppression in vivo. 23665223

2013
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis. 20471942

2010
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Structural basis of DNA recognition by p53 tetramers. 16793544

2006
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Cooperative binding of p53 to DNA: regulation by protein-protein interactions through a double salt bridge. 16035029

2005
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Clinical implications of p53 mutation analysis in bladder cancer tissue and urine sediment by functional assay in yeast. 15308588

2004
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Functional protein microarrays for parallel characterisation of p53 mutants. 15221755

2004
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. 11429705

2001
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations. 10206274

1999
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456

1997
dbSNP: rs879253911
rs879253911
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. 8118819

1994