Gene Variant Detail

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Gene PIK3CA
Variant E78K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PIK3CA E78K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E78K has been identified in the scientific literature (PMID: 27126994), 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.179199057G>A
cDNA c.232G>A
Protein p.E78K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179199057G>A c.232G>A p.E78K RefSeq GRCh38/hg38
XM_011512894 chr3:g.179199057G>A c.232G>A p.E78K RefSeq GRCh38/hg38
XM_006713658 chr3:g.179199057G>A c.232G>A p.E78K 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 Protein Effect Treatment Approaches
PIK3CA E78K unknown
PIK3CA E78K PIK3CA E726K PIK3CA D939G
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA E78K PIK3CA E726K PIK3CA D939G estrogen-receptor positive breast cancer no benefit Alpelisib + Letrozole Phase Ib/II Actionable In a Phase Ib trial, an estrogen-receptor positive breast cancer patient harboring PIK3CA mutations, E78K, D939G, and E726K, demonstrated progressive disease when treated with a combination of Femara (letrozole) and Alpelisib (BYL719) (PMID: 27126994). 27126994