Gene Variant Detail

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Gene PIK3CA
Variant N345I
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA N345I lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345I results in increased cell survival, but was not transforming in cell culture in one study (PMID: 26627007), but in two other studies, N345I demonstrated increased transformation ability in multiple cell lines compared to wild-type Pik3ca (PMID: 29533785, PMID: 29636477), and therefore, is predicted to result in a gain of Pik3ca protein function.
Associated Drug Resistance

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Transcript NM_006218
gDNA chr3:g.179203764A>T
cDNA c.1034A>T
Protein p.N345I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179203764A>T c.1034A>T p.N345I RefSeq GRCh38/hg38
NM_006218 chr3:g.179203764A>T c.1034A>T p.N345I RefSeq GRCh38/hg38
XM_011512894 chr3:g.179203764A>T c.1034A>T p.N345I 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 N345I breast cancer resistant Buparlisib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells expressing PIK3CA N345I demonstrated resistance to treatment with Buparlisib (BKM120) in culture (PMID: 29636477). 29636477