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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

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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_011512894 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
XM_006713658 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
NM_006218.3 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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
PIK3CA P447_L455del gain of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor