Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.740 GeneticVariation BEFREE Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%). 29666004

2018

dbSNP: rs28934576
rs28934576
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.740 GeneticVariation BEFREE The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. 24399651

2014

dbSNP: rs28934576
rs28934576
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.740 GeneticVariation BEFREE We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines. 21508668

2011

dbSNP: rs28934576
rs28934576
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.740 GeneticVariation BEFREE To identify functional binding sites of mutp53, we established a small library of genomic sequences bound by p53(R273H) in U251 human glioblastoma cells using chromatin immunoprecipitation (ChIP). 19139068

2009