Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 GeneticVariation BEFREE The canonical p53 hotspot mutants R175H and R273H, for example, confer upon tumors a metastatic phenotype in murine models of mutant p53. 31067569

2020

dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 GeneticVariation BEFREE Previously, we reported that suppression of ceramide glycosylation restored wild-type p53 protein and tumor suppressing function in cancer cells heterozygously carrying p53 R273H, a hot-spot missense mutation; however, the mechanisms underlying the control of mutant protein expression remain elusive. 30578766

2019

dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 GeneticVariation BEFREE TP53 G245C and R273H point mutations are two of the most frequent mutations in tumors and have been verified in several different cancers. 30126368

2018

dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 GeneticVariation BEFREE In addition, we have shown potential of CDK2 inhibitors for treatment of tumours expressing R273H mutant p53. 29372687

2017

dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 GeneticVariation BEFREE Inhibition of glucosylceramide synthase with d-threo-1-phenyl-2-decanoylamino-3-morpholino-1-propanol (PDMP) sensitized p53-R273H cancer cells and tumor xenografts to doxorubicin treatments. 27517620

2016

dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
T 0.780 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 GeneticVariation BEFREE To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expressed wild-type (wt) and R273H DN mutant TP53 (273H cells), and wt and R213Q recessive mutant TP53 (213Q cells), by transfection in endometrial cancer cells HHUA that expressed wt p53. 17636407

2007

dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 GeneticVariation BEFREE In contrast to the endometrioid-type tumor, all 3 mutations in 5 serous-type tumors (R273H, 9-bp deletion in codons 240-243, and R248W) showed dominant-negative capacity and presented in a homozygous state in the tumors, indicating a complete functional inactivation. 11733960

2001

dbSNP: rs28934576
rs28934576
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 GeneticVariation BEFREE All three follicular cell lines, however, and the original tumor tissue showed the same p53 mutation (R273H) in MOH analysis and TGGE. 7725741

1995