Disease: Liver carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913274
rs121913274
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913274
rs121913274
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913274
rs121913274
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		0.800 GeneticVariation UNIPROT PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678 2005
dbSNP: rs121913274
rs121913274
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		0.730 GeneticVariation BEFREE Using PIK3CA(H1047R)/c-Met, PIK3CA(E545K)/c-Met, and sgPten/c-Met murine HCC models, we also demonstrated that deletion of Sgk3 moderately delays PIK3CA(E545K)/c-Met driven HCC, while not affecting PIK3CA(H1047R)/c-Met or sgPten/c-Met HCC formation in mice. 30975125 2019
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		G 0.730 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		T 0.730 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		0.730 GeneticVariation BEFREE Moreover, by analyzing primary HCC tissue samples we were able to demonstrate that a hotspot mutation (H1047R) of PI3KCA, the gene encoding the catalytic subunit of PI3K, was associated with increased in vitro kinase activity of all AKT isoforms in comparison to healthy liver tissue of the patient. 23167739 2012
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		0.730 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165 2008
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		G 0.730 CausalMutation CLINVAR
dbSNP: rs104886003
rs104886003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		0.720 GeneticVariation BEFREE Similarly, in human HCC cell lines, silencing of SGK3 reduced PIK3CA(E545K</span>) -but not PIK3CA(H1047R)- induced accelerated tumor cell proliferation. 30975125 2019
dbSNP: rs104886003
rs104886003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		C 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs104886003
rs104886003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		A 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs104886003
rs104886003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		0.720 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165 2008
dbSNP: rs121913273
rs121913273
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913273
rs121913273
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913273
rs121913273
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		0.710 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165 2008
dbSNP: rs1057519925
rs1057519925
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519925
rs1057519925
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519926
rs1057519926
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519927
rs1057519927
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519927
rs1057519927
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519927
rs1057519927
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519932
rs1057519932
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913275
rs121913275
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016