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Gene PIK3CA
Variant C971R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA C971R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). C971R leads to Akt phosphorylation similar to wild-type Pik3ca (PMID: 34779417), but results in increased cell proliferation, viability, migration, and transformation ability compared to wild-type Pik3ca in several cell lines in culture (PMID: 29533785, PMID: 34779417), and in another study results in increased PI3K pathway signaling and moderate growth compared to control (PMID: 23619167), and therefore, is predicted to lead to a gain of Pik3ca protein function.
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA C971R

PIK3CA mutant PIK3CA exon20 PIK3CA C971R

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Transcript NM_006218.4
gDNA chr3:g.179230351T>C
cDNA c.2911T>C
Protein p.C971R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.4 chr3:g.179230351T>C c.2911T>C p.C971R RefSeq GRCh38/hg38
NM_006218 chr3:g.179230351T>C c.2911T>C p.C971R RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179230351T>C c.2911T>C p.C971R RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179230351T>C c.2911T>C p.C971R RefSeq GRCh38/hg38
XM_006713658 chr3:g.179230351T>C c.2911T>C p.C971R RefSeq GRCh38/hg38
XM_011512894 chr3:g.179230351T>C c.2911T>C p.C971R RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179230351T>C c.2911T>C p.C971R RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179230351T>C c.2911T>C p.C971R 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")

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Molecular Profile Protein Effect Treatment Approaches
PIK3CA C971R gain of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor