Gene Variant Detail

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Gene PIK3CA
Variant S629C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA S629C lies within the PIK helical domain of the Pik3ca protein (UniProt.org). S629C has not been biochemically characterized, but results in increased transformation ability in two different cell lines in culture (PMID: 29533785), 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 S629C

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Transcript NM_006218.3
gDNA chr3:g.179219710C>G
cDNA c.1886C>G
Protein p.S629C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179219710C>G c.1886C>G p.S629C RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179219710C>G c.1886C>G p.S629C RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179219710C>G c.1886C>G p.S629C RefSeq GRCh38/hg38
XM_011512894 chr3:g.179219710C>G c.1886C>G p.S629C RefSeq GRCh38/hg38
XM_006713658 chr3:g.179219710C>G c.1886C>G p.S629C RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179219710C>G c.1886C>G p.S629C RefSeq GRCh38/hg38

Filtering

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  • 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"

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