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Gene PIK3CA
Variant N1044K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA N1044K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044K confers a gain of function to Pik3ca protein as indicated by increased cell survival and transforming ability in cell culture (PMID: 26627007, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA N1044K

PIK3CA mutant PIK3CA exon21 PIK3CA N1044K

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Transcript NM_006218.4
gDNA chr3:g.179234289T>G
cDNA c.3132T>G
Protein p.N1044K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179234289T>G c.3132T>G p.N1044K RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234289T>G c.3132T>G p.N1044K RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234289T>G c.3132T>G p.N1044K RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234289T>G c.3132T>G p.N1044K RefSeq GRCh38/hg38
NM_006218 chr3:g.179234289T>G c.3132T>G p.N1044K RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234289T>G c.3132T>G p.N1044K RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234289T>G c.3132T>G p.N1044K RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234289T>G c.3132T>G p.N1044K RefSeq GRCh38/hg38

Filtering

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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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA N1044K colorectal cancer predicted - sensitive Alpelisib Preclinical - Patient cell culture Actionable In a preclinical study, Piqray (alpelisib) inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PIK3CA N1044K, along with KRAS G12D, in culture (PMID: 32376656). 32376656
PIK3CA N1044K colorectal cancer predicted - sensitive MK2206 Preclinical - Patient cell culture Actionable In a preclinical study, MK2206 inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PIK3CA N1044K, along with KRAS G12D, in culture (PMID: 32376656). 32376656
PIK3CA N1044K colorectal cancer predicted - sensitive Taselisib Preclinical - Patient cell culture Actionable In a preclinical study, Taselisib (GDC-0032) inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PIK3CA N1044K, along with KRAS G12D, in culture (PMID: 32376656). 32376656