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Gene | PIK3CA |
Variant | E453_D454del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA E453_D454del results in the deletion of two amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 453 to 454 (UniProt.org). E453_D454del 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, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA E453_D454del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210291_179210296delGAAGAT |
cDNA | c.1357_1362delGAAGAT |
Protein | p.E453_D454del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179210291_179210296delGAAGAT | c.1357_1362delGAAGAT | p.E453_D454del | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210291_179210296delGAAGAT | c.1357_1362delGAAGAT | p.E453_D454del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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