PIK3CA H1047Y
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
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA H1047Y

PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047Y

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Transcript NM_006218.4
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
NM_006218.4 chr3:g.179234296C>T c.3139C>T p.H1047Y RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234296C>T c.3139C>T p.H1047Y RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234296C>T c.3139C>T p.H1047Y RefSeq GRCh38/hg38
XM_011512894.2 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
XM_006713658.4 chr3:g.179234296C>T c.3139C>T p.H1047Y RefSeq GRCh38/hg38

Filtering

  • 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 H1047Y endometrial cancer sensitive MEN1611 Preclinical - Cell line xenograft Actionable In a preclinical study, MEN1611 (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
PIK3CA H1047Y glioblastoma sensitive YM-024 Preclinical Actionable In a preclinical study, glioblastoma cell lines harboring PIK3CA H1047Y demonstrated increased sensitivity to YM-024 induced growth inhibition (PMID: 24718026). 24718026