Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934578
rs28934578
0.780 GeneticVariation BEFREE These findings suggest that TP53 somatic mutations, particularly at codon p.R175H, are enriched in tumors with infiltrating immune cells. 31637877

2019

dbSNP: rs28934578
rs28934578
0.780 GeneticVariation BEFREE In addition, exogenous Δ40p53 expression significantly suppressed cell growth in HCC cells with wild-type TP53, and in those that were mutant or null for TP53 Notably, Δ40p53α-induced tumor suppressor activity was markedly attenuated in cells expressing the hot-spot mutant Δ40p53α-R175H, which lacks the transcription factor activity of p53. 27980070

2017

dbSNP: rs28934578
rs28934578
0.780 GeneticVariation BEFREE Targeted next-generation sequencing with ThyroSeq v2 was performed on the tumor, and only a TP53 mutation (TP53 p.R175H) was identified. 26744121

2016

dbSNP: rs28934578
rs28934578
T 0.780 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs28934578
rs28934578
0.780 GeneticVariation BEFREE Ectopic expression of this truncated domain significantly suppressed G1/S-phase transition, cellular proliferation, and tumour formation of RK3E-p53(R175H) /Rsf-1/cyclin E1 cells. 23378270

2013

dbSNP: rs28934578
rs28934578
0.780 GeneticVariation BEFREE Moreover, R175H gain-of-function mutant expands the mammary epithelial stem cells (MESCs) that give rise to the mammary tumors. 22824795

2013

dbSNP: rs28934578
rs28934578
0.780 GeneticVariation BEFREE Since tumor cells face glucose and growth factor shortage when growing distant from sites of vascularization, we used genetically-matched human C8161 melanoma harbouring wt p53 or a tumor-associated (DN) mutant p53 (R175H), to investigate whether this mutation influences survival under metabolic stress. 21832879

2011

dbSNP: rs28934578
rs28934578
T 0.780 GeneticVariation CLINVAR p53 regulates glucose metabolism through an IKK-NF-kappaB pathway and inhibits cell transformation. 18391940

2008

dbSNP: rs28934578
rs28934578
0.780 GeneticVariation BEFREE In vitro, the R175L mutant displayed an attenuated tumor suppressor activity in the regulation of transcription, colony formation, and apoptosis when compared with wild-type p53 and the R175H mutant. 16707427

2006

dbSNP: rs28934578
rs28934578
0.780 GeneticVariation BEFREE To understand the relevance of p53 missense mutations in vivo, we generated a mouse containing an arg-to-his substitution at p53 amino acid 172, which corresponds to the R175H hot-spot mutation in human tumors by homologous recombination. 10760284

2000

dbSNP: rs28934578
rs28934578
T 0.780 GeneticVariation CLINVAR Role of the p53-homologue p73 in E2F1-induced apoptosis. 11101847

2000