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Gene | PIK3CA |
Variant | D1029Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA D1029Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1029Y confers a gain of function to the Pik3ca protein, as demonstrated by increased phosphorylation of Akt and transformation of cells in culture (PMID: 19394761). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA D1029Y PIK3CA mutant PIK3CA exon21 PIK3CA D1029Y |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234242G>T |
cDNA | c.3085G>T |
Protein | p.D1029Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179234242G>T | c.3085G>T | p.D1029Y | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179234242G>T | c.3085G>T | p.D1029Y | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179234242G>T | c.3085G>T | p.D1029Y | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234242G>T | c.3085G>T | p.D1029Y | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179234242G>T | c.3085G>T | p.D1029Y | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179234242G>T | c.3085G>T | p.D1029Y | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234242G>T | c.3085G>T | p.D1029Y | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179234242G>T | c.3085G>T | p.D1029Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA D1029Y | gain of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |
PIK3CA D1029Y PTEN loss | ||
PIK3CA D1029Y PTEN inact mut |