Gene Variant Detail

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Gene PIK3CA
Variant N1068Kfs*5
Impact List frameshift
Protein Effect gain of function
Gene Variant Descriptions PIK3CA N1068Kfs*5 indicates a shift in the reading frame starting at the final amino acid of the Pik3ca protein, 1068, and terminating 5 residues downstream, resulting in extension of the Pik3ca protein length by 3 amino acids (UniProt.org). N1068Kfs*5 results in increased cell proliferation, migration, and Akt phosphorylation compared to wild-type Pik3ca (PMID: 34779417), and increased transformation ability in several different cell lines in culture (PMID: 29533785, PMID: 34779417).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA N1068Kfs*5

PIK3CA mutant PIK3CA exon21 PIK3CA N1068Kfs*5

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Transcript NM_006218.4
gDNA chr3:g.179234360dupA
cDNA c.3203dupA
Protein p.N1068Kfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References