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Gene | PIK3CA |
Variant | P447_L455del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA P447_L455del results in the deletion of nine amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 447 to 455 (UniProt.org). P447_L455del confers a gain of function to the Pik3ca protein as demonstrated by transformation in culture and activation of the PI3K/Akt/Mtor pathway via increased phosphorylation of Akt, Erk, P70S6K, and P90RSK (PMID: 21266528, PMID: 29284706). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA P447_L455del PIK3CA mutant PIK3CA exon8 PIK3CA P447_L455del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210274_179210300del27 |
cDNA | c.1340_1366del27 |
Protein | p.P447_L455delPVPHGLEDL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.5 | chr3:g.179210274_179210300del27 | c.1340_1366del27 | p.P447_L455delPVPHGLEDL | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210274_179210300del27 | c.1340_1366del27 | p.P447_L455delPVPHGLEDL | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179210274_179210300del27 | c.1340_1366del27 | p.P447_L455delPVPHGLEDL | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210274_179210300del27 | c.1340_1366del27 | p.P447_L455delPVPHGLEDL | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179210274_179210300del27 | c.1340_1366del27 | p.P447_L455delPVPHGLEDL | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179210274_179210300del27 | c.1340_1366del27 | p.P447_L455delPVPHGLEDL | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179210274_179210300del27 | c.1340_1366del27 | p.P447_L455delPVPHGLEDL | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210274_179210300del27 | c.1340_1366del27 | p.P447_L455delPVPHGLEDL | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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