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Gene | PIK3CA |
Variant | D549Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA D549Y lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D549Y has been identified in the scientific literature (PMID: 29106415, PMID: 26270481), 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 exon10 PIK3CA D549Y |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218315G>T |
cDNA | c.1645G>T |
Protein | p.D549Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179218315G>T | c.1645G>T | p.D549Y | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218315G>T | c.1645G>T | p.D549Y | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218315G>T | c.1645G>T | p.D549Y | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218315G>T | c.1645G>T | p.D549Y | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218315G>T | c.1645G>T | p.D549Y | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218315G>T | c.1645G>T | p.D549Y | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218315G>T | c.1645G>T | p.D549Y | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218315G>T | c.1645G>T | p.D549Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA D549Y | urinary bladder cancer | decreased response | Pictilisib | Preclinical - Pdx | Actionable | In a preclinical study, Pictilisib (GDC-0941) demonstrated limited tumor growth inhibition and survival benefit in patient-derived xenograft (PDX) models of bladder cancer harboring PIK3CA D549Y (PMID: 28808038). | 28808038 |