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Gene | PIK3CA |
Variant | E453del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA E453del results in the deletion of an amino acid in the C2 PI3K-type domain of the Pik3ca protein at amino acid 453 (UniProt.org). E453del has been identified in sequencing studies (PMID: 35145232, PMID: 31349857, PMID: 26226847), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA E453del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210293_179210295delAGA |
cDNA | c.1359_1361delAGA |
Protein | p.E453del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179210293_179210295delAGA | c.1359_1361delAGA | p.E453del | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210293_179210295delAGA | c.1359_1361delAGA | p.E453del | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179210293_179210295delAGA | c.1359_1361delAGA | p.E453del | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210293_179210295delAGA | c.1359_1361delAGA | p.E453del | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179210293_179210295delAGA | c.1359_1361delAGA | p.E453del | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210293_179210295delAGA | c.1359_1361delAGA | p.E453del | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210293_179210295delAGA | c.1359_1361delAGA | p.E453del | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179210293_179210295delAGA | c.1359_1361delAGA | p.E453del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA E453del | unknown | |
PIK3CA R88L PIK3CA E453del PIK3CA T1052K PTEN loss PTEN mut |