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Gene | PIK3CA |
Variant | L436_P449dup |
Impact List | duplication |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA L436_P449dup indicates the insertion of 14 duplicate amino acids, leucine (L)-436 through proline (P)-449, in the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). L436_P449dup has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA L436_P449dup |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210240_179210281 |
cDNA | c.1306_1347 |
Protein | p.L436_P449 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.5 | chr3:g.179210240_179210281 | c.1306_1347 | p.L436_P449 | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210240_179210281 | c.1306_1347 | p.L436_P449 | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179210282_179210283insTTGTAAGCGGTAAGATGGCACTTAACCTTTGGCCTGTACCTC | c.1348_1349insTTGTAAGCGGTAAGATGGCACTTAACCTTTGGCCTGTACCTC | p.L436_P449dup | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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