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Gene PIK3CA
Variant M1043I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA M1043I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043I confers a gain of function on the Pik3ca protein as indicated by in increased phosphorylation of Akt, activation of downstream signaling, and transformation in cell culture (PMID: 17376864, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA M1043I

PIK3CA mutant PIK3CA exon21 PIK3CA M1043I

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Transcript NM_006218.4
gDNA chr3:g.179234286G>C
cDNA c.3129G>C
Protein p.M1043I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.3 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
NM_006218 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA M1043I PIK3CA amp bladder urothelial carcinoma predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic urothelial bladder cancer harboring PIK3CA M1043I and PIK3CA amplification (copy number >20), as well as amplification of CCND1 and loss of CDKN2A and CDKN2B, was treated with Afinitor (everolimus) and achieved a complete response including remission of lymph node metastases, and remained progression-free at 6 months (PMID: 33745098). 33745098
BRAF V600E PIK3CA M1043I thyroid gland anaplastic carcinoma sensitive Dasatinib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Sprycel (dasatinib) and Mekinist (trametinib) inhibited viability of an anaplastic thyroid cancer cell line harboring BRAF V600E and PIK3CA M1043I in culture (PMID: 37713162). 37713162