Gene Variant Detail

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Gene PIK3CA
Variant H450_P458del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions PIK3CA H450_P458del results in the deletion of nine amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 450 to 458 (UniProt.org). H450_P458del 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: 29284706).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA H450_P458del

PIK3CA mutant PIK3CA exon8 PIK3CA H450_P458del

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Transcript NM_006218.4
gDNA chr3:g.179210282_179210308del27
cDNA c.1348_1374del27
Protein p.H450_P458delHGLEDLLNP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894.2 chr3:g.179210282_179210308del27 c.1348_1374del27 p.H450_P458delHGLEDLLNP RefSeq GRCh38/hg38
XM_006713658 chr3:g.179210282_179210308del27 c.1348_1374del27 p.H450_P458delHGLEDLLNP RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179210282_179210308del27 c.1348_1374del27 p.H450_P458delHGLEDLLNP RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179210282_179210308del27 c.1348_1374del27 p.H450_P458delHGLEDLLNP RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179210282_179210308del27 c.1348_1374del27 p.H450_P458delHGLEDLLNP RefSeq GRCh38/hg38
XM_011512894 chr3:g.179210282_179210308del27 c.1348_1374del27 p.H450_P458delHGLEDLLNP RefSeq GRCh38/hg38
NM_006218 chr3:g.179210282_179210308del27 c.1348_1374del27 p.H450_P458delHGLEDLLNP RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179210282_179210308del27 c.1348_1374del27 p.H450_P458delHGLEDLLNP RefSeq GRCh38/hg38

Filtering

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries