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 | H701P |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | PIK3CA H701P does not lie within any known functional domains of the Pik3ca protein (UniProt.org). H701P demonstrates transformation potential and ability to promote growth factor-independent cell survival at similar levels to wild-type Pik3ca protein in cell culture (PMID: 26627007, PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA H701P |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179221072A>C |
| cDNA | c.2102A>C |
| Protein | p.H701P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011512894.2 | chr3:g.179221072A>C | c.2102A>C | p.H701P | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179221072A>C | c.2102A>C | p.H701P | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179221072A>C | c.2102A>C | p.H701P | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179221072A>C | c.2102A>C | p.H701P | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179221072A>C | c.2102A>C | p.H701P | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179221072A>C | c.2102A>C | p.H701P | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179221072A>C | c.2102A>C | p.H701P | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179221072A>C | c.2102A>C | p.H701P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|