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Gene PIK3CA
Variant D549N
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA D549N lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D549N results in increased transformation ability in two different cell lines in culture (PMID: 29533785), and therefore, is predicted to lead to a gain of Pik3ca protein function.
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA D549N

PIK3CA mutant PIK3CA exon10 PIK3CA D549N

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Transcript NM_006218.4
gDNA chr3:g.179218315G>A
cDNA c.1645G>A
Protein p.D549N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179218315G>A c.1645G>A p.D549N RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179218315G>A c.1645G>A p.D549N RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179218315G>A c.1645G>A p.D549N RefSeq GRCh38/hg38
NM_006218 chr3:g.179218315G>A c.1645G>A p.D549N RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218315G>A c.1645G>A p.D549N RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179218315G>A c.1645G>A p.D549N RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218315G>A c.1645G>A p.D549N RefSeq GRCh38/hg38
XM_011512894 chr3:g.179218315G>A c.1645G>A p.D549N RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
PIK3CA D549N gain of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor