PIK3CA N1044K - Gene Variant Detail

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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_011512894.2 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 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
XM_006713658 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
XM_006713658.4 chr3:g.179234289T>G c.3132T>G p.N1044K 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

  • 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 Protein Effect Treatment Approaches
PIK3CA N1044K gain of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor