Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913274
rs121913274
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913274
rs121913274
0.800 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005

dbSNP: rs121913274
rs121913274
0.800 GeneticVariation UNIPROT

dbSNP: rs121913279
rs121913279
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913279
rs121913279
0.720 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

2013

dbSNP: rs121913279
rs121913279
0.720 CausalMutation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222

2012

dbSNP: rs121913279
rs121913279
0.720 CausalMutation CLINVAR Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544

2012

dbSNP: rs121913279
rs121913279
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: rs121913279
rs121913279
0.720 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550

2007

dbSNP: rs121913279
rs121913279
0.720 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005

dbSNP: rs121913279
rs121913279
0.720 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168

2004

dbSNP: rs121913279
rs121913279
0.720 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963

2004

dbSNP: rs104886003
rs104886003
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913273
rs121913273
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs104886003
rs104886003
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: rs121913273
rs121913273
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
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519926
rs1057519926
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519927
rs1057519927
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519932
rs1057519932
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913275
rs121913275
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913281
rs121913281
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs587776802
rs587776802
0.700 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005