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Gene PIK3CA
Variant M1043V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA M1043V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043V results in 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.179234284A>G
cDNA c.3127A>G
Protein p.M1043V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
NM_006218 chr3:g.179234284A>G c.3127A>G p.M1043V 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA M1043V Advanced Solid Tumor sensitive Sirolimus Preclinical Actionable In a preclinical study, Rapamune (sirolimus) inhibited proliferation in cultured cells expressing PIK3CA M1043V (PMID: 17376864). 17376864
HRAS mut PIK3CA M1043V malignant glioma sensitive Buparlisib + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the combination therapy of Buparlisib (BKM120) and Selumetinib (AZD6244) led to a synergistic effect, resulting in growth inhibition of astrocytoma cells with an HRAS mutation and expressing PIK3CA M1043V in culture, but at a higher drug concentration compared to cells without mutant HRAS (PMID: 29975751). 29975751