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_006218.3
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
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_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 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234360dupA c.3203dupA p.N1068Kfs*5 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"

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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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