Gene Variant Detail

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Gene PIK3CA
Variant H1047Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA H1047Y is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047Y confers a gain of function on the Pik3ca protein as indicated by increased phosphorylation of Akt, activation of downstream signaling, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
Associated Drug Resistance

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Transcript NM_006218
gDNA chr3:g.179234296C>T
cDNA c.3139C>T
Protein p.H1047Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179234296C>T c.3139C>T p.H1047Y RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234296C>T c.3139C>T p.H1047Y RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234296C>T c.3139C>T p.H1047Y 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 H1047Y glioblastoma multiforme sensitive YM-024 Preclinical Actionable In a preclinical study, glioblastoma cell lines harboring PIK3CA H1047Y demonstrated increased sensitivity to YM-204 induced growth inhibition (PMID: 24718026). 24718026
PIK3CA H1047Y endometrial cancer sensitive CH5132799 Preclinical - Cell line xenograft Actionable In a preclinical study, CH5132799 inhibited cell growth in a human endometrial cancer cell line harboring a PIK3CA H1047Y mutation, and inhibited tumor growth in xenograft models (PMID: 21558396). 21558396