Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | PIK3CA |
| Variant | M1004I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PIK3CA M1004I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1004I results in increased cell proliferation and cell viability compared to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA exon21 PIK3CA M1004I |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179234169G>C |
| cDNA | c.3012G>C |
| Protein | p.M1004I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713658 | chr3:g.179234169G>C | c.3012G>C | p.M1004I | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179234169G>C | c.3012G>C | p.M1004I | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179234169G>C | c.3012G>C | p.M1004I | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179234169G>C | c.3012G>C | p.M1004I | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179234169G>C | c.3012G>C | p.M1004I | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179234169G>C | c.3012G>C | p.M1004I | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179234169G>C | c.3012G>C | p.M1004I | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179234169G>C | c.3012G>C | p.M1004I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|