Gene Variant Detail

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Gene PIK3CA
Variant V952A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA V952A lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). V952A results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to Erbitux (cetuximab) in culture (PMID: 28424201) and therefore, is predicted to result in a gain of Pik3ca protein function.
Associated Drug Resistance Y

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Transcript NM_006218
gDNA chr3:g.179230295T>C
cDNA c.2855T>C
Protein p.V952A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894 chr3:g.179230295T>C c.2855T>C p.V952A RefSeq GRCh38/hg38
XM_006713658 chr3:g.179230295T>C c.2855T>C p.V952A RefSeq GRCh38/hg38
NM_006218 chr3:g.179230295T>C c.2855T>C p.V952A 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
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA V952A colorectal cancer resistant Cetuximab + Fluorouracil Case Reports/Case Series Actionable In a clinical study, PIK3CA V952A was identified as a potential mechanism for acquired Erbitux (cetuximab) resistance in a colorectal cancer patient, which is consistent with cell culture studies demonstrating moderate resistance to Erbitux (cetuximab) and Fluorouracil combination treatment in colorectal cancer cells over expressing PIK3CA V952A (PMID: 28424201). 28424201