Gene Variant Detail

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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, Feb 2020).
Associated Drug Resistance

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Transcript NM_006218
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
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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
PIK3CA D549Y unknown
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