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Gene | PIK3CA |
Variant | L452_P458del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA L452_P458del results in the deletion of seven amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 452 to 458 (UniProt.org). L452_P458del has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA L452_P458del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210288_179210308del21 |
cDNA | c.1354_1374del21 |
Protein | p.L452_P458delLEDLLNP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179210288_179210308del21 | c.1354_1374del21 | p.L452_P458del | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210288_179210308del21 | c.1354_1374del21 | p.L452_P458del | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210288_179210308del21 | c.1354_1374del21 | p.L452_P458delLEDLLNP | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210288_179210308del21 | c.1354_1374del21 | p.L452_P458del | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210288_179210308del21 | c.1354_1374del21 | p.L452_P458delLEDLLNP | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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