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PIK3CA P124L - Gene Variant Detail

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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

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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
NM_006218 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_006713658 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
XM_006713658.5 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_006713658.4 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

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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