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Gene | PIK3CA |
Variant | P124L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA P124L does not lie within any known functional domains of the Pik3ca protein (UniProt.org). P124L results in activation of Pik3ca signaling as indicated by increased Akt phosphorylation in cell culture (PMID: 22430209), and therefore, is predicted to lead to a gain of Pik3ca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA P124L |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199708C>T |
cDNA | c.371C>T |
Protein | p.P124L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658 | chr3:g.179199708C>T | c.371C>T | p.P124L | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199708C>T | c.371C>T | p.P124L | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199708C>T | c.371C>T | p.P124L | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179199708C>T | c.371C>T | p.P124L | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199708C>T | c.371C>T | p.P124L | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199708C>T | c.371C>T | p.P124L | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179199708C>T | c.371C>T | p.P124L | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199708C>T | c.371C>T | p.P124L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA P124L | urinary bladder cancer | resistant | MK2206 | Preclinical - Cell culture | Actionable | In a preclinical study, a bladder cancer cell line harboring PIK3CA P124L was resistant to MK2206 in culture (PMID: 25349966). | 25349966 |