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Gene | PIK3CA |
Variant | I459_T462del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA I459_T462del results in the deletion of four amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 459 to 462 (UniProt.org). PIK3CA I459_T462del results in increased phosphorylation of Akt, Erk, P70S6K, and S6 in culture (PMID: 35012940), 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 I459_T462del PIK3CA mutant PIK3CA exon8 PIK3CA I459_T462del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210309_179210320del12 |
cDNA | c.1375_1386del12 |
Protein | p.I459_T462delIGVT |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179210309_179210320del12 | c.1375_1386del12 | p.I459_T462del | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210309_179210320del12 | c.1375_1386del12 | p.I459_T462del | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210309_179210320del12 | c.1375_1386del12 | p.I459_T462delIGVT | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210309_179210320del12 | c.1375_1386del12 | p.I459_T462delIGVT | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179210309_179210320del12 | c.1375_1386del12 | p.I459_T462del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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