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Gene | PIK3CA |
Variant | A1066V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA A1066V does not lie within any known functional domains of the Pik3ca protein (UniProt.org). A1066V results in Akt phosphorylation levels similar to wild-type Pik3ca, but results in increased anchorage-independent colony formation and cell motility in conditions without growth factor in cell culture (PMID: 22430209), and therefore, its effect on Pik3ca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon21 PIK3CA A1066V |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234354C>T |
cDNA | c.3197C>T |
Protein | p.A1066V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179234354C>T | c.3197C>T | p.A1066V | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179234354C>T | c.3197C>T | p.A1066V | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179234354C>T | c.3197C>T | p.A1066V | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234354C>T | c.3197C>T | p.A1066V | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234354C>T | c.3197C>T | p.A1066V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA A1066V | urinary bladder cancer | resistant | MK2206 | Preclinical - Cell culture | Actionable | In a preclinical study, a bladder cancer cell line harboring PIK3CA A1066V, along with KRAS and NRAS mutations, was resistant to MK2206 in culture (PMID: 25349966). | 25349966 |