Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation BEFREE These results indicate that mutant TP53 G245C and R273H can lead to more aggressive phenotypes and enhance cancer cell malignancy, which further uncover TP53 function in carcinogenesis and might be useful in clinical diagnosis and therapy of TP53 mutant cancers. 30126368

2018

dbSNP: rs28934576
rs28934576
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation BEFREE In the current study, the combined loss of PAX2 and expression of the R273H p53 mutant protein in murine oviductal epithelial (MOE) cells enhanced proliferation and growth in soft agar in vitro but was insufficient to drive tumorigenesis in vivo. 27991925

2017

dbSNP: rs28934576
rs28934576
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation BEFREE This study has investigated the impact of three specific dominant-negative p53 mutants (F134L, M237L, and R273H) on tumorigenesis by LNCaP prostate cancer cells. 16723121

2006

dbSNP: rs28934576
rs28934576
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation BEFREE Heterozygous p53(R270H/+)WAPCre mice (with mammary gland-specific expression of the p53.R270H mutation, equivalent to human R273H, at physiologic levels) develop mammary tumors at high frequency, indicating that the R270H mutation predisposes for mammary gland tumor development and acts in a dominant-negative manner in early stages of tumorigenesis. 16166291

2005