TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371409680
rs371409680
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease:
Neoplasms 		0.020 GeneticVariation BEFREE A total (p21 and bax) or partial (bax only) loss of transcriptional activity was observed in 15 of 52 (29%) and 4 of 52 (7.7%) cases, respectively, a partial loss being consistently associated with R283H mutation. p53 nuclear overexpression grossly overestimated (approximately 40%) or underestimated (approximately 10%) the true incidence of p53 transcriptional abnormalities, especially in Ta-T1 grade 1 to 2 tumors. 16000567 2005
dbSNP: rs371409680
rs371409680
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease:
Neoplasms 		0.020 GeneticVariation BEFREE Functional analysis of the p53 alleles present in the patient's tumor indicated that the germ-line p53(R283H) could transactivate the CDKN1A((p21, WAF1, cip1, SDI1)) but not the BAX gene and retained the ability to induce growth arrest of human glioblastoma cells. 12019170 2002