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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_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 |
NM_006218.3 | 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 |
XM_011512894 | 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_006713658.5 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA P124L | gain of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |
PIK3CA P124L PTEN del | ||
FGFR3 K652E PIK3CA P124L |