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| Gene | PIK3CA |
| Variant | M1043I |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PIK3CA M1043I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043I confers a gain of function on the Pik3ca protein as indicated by in increased phosphorylation of Akt, activation of downstream signaling, and transformation in cell culture (PMID: 17376864, PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA M1043I PIK3CA mutant PIK3CA exon21 PIK3CA M1043I |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179234286G>C |
| cDNA | c.3129G>C |
| Protein | p.M1043I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011512894 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PIK3CA M1043I | gain of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |
| PIK3CA M1043I PIK3CA amp | ||
| BRAF V600E PIK3CA M1043I |