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Gene | PIK3CA |
Variant | H450_L455del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA H450_L455del results in the deletion of six amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 450 to 455 (UniProt.org). H450_L455del has been identified in sequencing studies (PMID: 30393068, PMID: 32869930), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA H450_L455del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210283_179210300del18 |
cDNA | c.1349_1366del18 |
Protein | p.H450_L455del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179210283_179210300del18 | c.1349_1366del18 | p.H450_L455del | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210283_179210300del18 | c.1349_1366del18 | p.H450_L455del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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