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Gene PIK3CA
Variant Q75E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA Q75E lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). Q75E results in increased cell proliferation, migration, and increased phosphorylation of Akt compared to wild-type Pik3ca and is transforming in culture (PMID: 34779417).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA Q75E

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Transcript NM_006218.4
gDNA chr3:g.179199048C>G
cDNA c.223C>G
Protein p.Q75E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894.2 chr3:g.179199048C>G c.223C>G p.Q75E RefSeq GRCh38/hg38
XM_011512894 chr3:g.179199048C>G c.223C>G p.Q75E RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179199048C>G c.223C>G p.Q75E RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179199048C>G c.223C>G p.Q75E RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179199048C>G c.223C>G p.Q75E RefSeq GRCh38/hg38
NM_006218 chr3:g.179199048C>G c.223C>G p.Q75E RefSeq GRCh38/hg38
XM_006713658 chr3:g.179199048C>G c.223C>G p.Q75E RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179199048C>G c.223C>G p.Q75E RefSeq GRCh38/hg38

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  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA Q75E head and neck squamous cell carcinoma predicted - sensitive Alpelisib Case Reports/Case Series Actionable In clinical case study, treatment with Piqray (alpelisib) resulted in a partial response with 73% tumor shrinkage in a patient with head and neck squamous cell carcinoma (HNSCC) harboring PIK3CA Q75E, and in a preclinical analysis, resulted in inhibition of proliferation and increased apoptosis in a HNSCC cell line expressing PIK3CA Q75E in culture (PMID: 34779417). 34779417