TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519975
rs1057519975
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE The objective of the study was to check whether a polymorphism in the RAD51 gene (135 G>C), Ku70 protein expression, and tumor microenvironment: proliferation rate measured by BrdUrdLI and Ki-67LI, hypoxia (glucose transporter-1 expression), P53 protein expression, and DNA ploidy can influence DNA repair capacity, the factors contributing to patient overall survival (OS) and the incidence of recurrences and metastases. 30289394 2019
dbSNP: rs1057519975
rs1057519975
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE These results demonstrate that the amino acid change C135R in the human TP53 generates the loss of TP53 DNA-binding activity directly affecting its role as a transcription factor and suggests that this observation can explain part of the phenotype described in patients affected by this type of tumor. 17914575 2007