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| Gene | PIK3CA |
| Variant | M1040I |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | PIK3CA M1040I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1040I results in levels of cell proliferation, migration, and phosphorylation of Akt similar to wild-type Pik3ca and is not transforming in culture (PMID: 34779417). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA exon21 PIK3CA M1040I |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179234277G>C |
| cDNA | c.3120G>C |
| Protein | p.M1040I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006218.3 | chr3:g.179234277G>C | c.3120G>C | p.M1040I | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179234277G>C | c.3120G>C | p.M1040I | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179234277G>C | c.3120G>C | p.M1040I | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179234277G>C | c.3120G>C | p.M1040I | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179234277G>C | c.3120G>C | p.M1040I | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179234277G>C | c.3120G>C | p.M1040I | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179234277G>C | c.3120G>C | p.M1040I | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179234277G>C | c.3120G>C | p.M1040I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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