TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Liver and Intrahepatic Biliary Tract Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934571
rs28934571
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma 		0.030 GeneticVariation BEFREE We developed liver cancer cell lines that endogenously expressed a mutant form of TP53 (R249S) or overexpressed mutant forms of STAT3 (D170Y, K348E, and Y640F) or JAK1 (S703I and L910P) and tested the abilities of pharmacologic agents to reduce activity. 31560893 2019
dbSNP: rs28934571
rs28934571
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma 		0.030 GeneticVariation BEFREE The p53(R249S) mutation is the most prevalent and specific mutation associated with liver cancer development. 30640060 2019
dbSNP: rs28934571
rs28934571
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma 		0.030 GeneticVariation BEFREE Interestingly, the fraction of droplets positive for R249S was significantly larger in patients with liver cancer (15.3 ± 3.7%) than in controls (0.5 ± 0.3%, P = 7.1E-04). 29749584 2018