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
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 GeneticVariation BEFREE PK9318, one of the most potent binders, restored p53 signaling in the liver cancer cell line HUH-7 with homozygous Y220C mutation. 31633398 2019
dbSNP: rs587782237
rs587782237
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 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: rs28934575
rs28934575
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 GeneticVariation BEFREE The mutation Arg114Gly was predicted bioinformatically to affect Nogo-66 dimensional structure of Nogo-C. Our previous works also had indicated that mutant Nogo-C promoted liver cancer cell line apoptosis and resulted in molecular marker of HCC p53 gene transfer from nucleus to cytoplast. 18080785 2009