Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Structural effects of the L145Q, V157F, and R282W cancer-associated mutations in the p53 DNA-binding core domain. 21561095

2011
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Diversity in DNA recognition by p53 revealed by crystal structures with Hoogsteen base pairs. 20364130

2010
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. 16861262

2007
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells. 16778209

2006
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR A global suppressor motif for p53 cancer mutants. 15037740

2004
dbSNP: rs121912654
rs121912654
TP53
A 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: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Tumor-derived p53 mutants induce oncogenesis by transactivating growth-promoting genes. 15077194

2004
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Rapid and sensitive p53 alteration analysis in biopsies from lung cancer patients using a functional assay and a universal oligonucleotide array: a prospective study. 15161705

2004
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Comparison of p53 mutational status with mRNA and protein expression in a panel of 24 human breast carcinoma cell lines. 12779080

2003
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Loss of MDM2 expression in human head and neck squamous cell carcinomas and clinical significance. 11590071

2001
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Clinical significance of p53 functional loss in squamous cell carcinoma of the oropharynx. 10754498

2000
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Cells with TP53 mutations in low grade astrocytic tumors evolve clonally to malignancy and are an unfavorable prognostic factor. 10557074

1999
dbSNP: rs121912654
rs121912654
TP53
A 0.700 GeneticVariation CLINVAR Effects of p53 mutants derived from lung carcinomas on the p53-responsive element (p53RE) of the MDM2 gene. 9472631

1998