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Gene | PIK3CA |
Variant | C692Ffs*8 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA C692Ffs*8 indicates a shift in the reading frame starting at amino acid 692 and terminating 8 residues downstream causing a premature truncation of the 1068 amino acid Pik3ca protein (UniProt.org). C692Ffs*8 has been identified in the scientific literature (PMID: 34210658), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA C692Ffs*8 |
Transcript | NM_006218.4 |
gDNA | chr3:g.179221045delG |
cDNA | c.2075delG |
Protein | p.C692Ffs*8 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179221045delG | c.2075delG | p.C692Ffs*8 | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179221045delG | c.2075delG | p.C692Ffs*8 | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179221045delG | c.2075delG | p.C692Ffs*8 | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179221045delG | c.2075delG | p.C692Ffs*8 | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179221045delG | c.2075delG | p.C692Ffs*8 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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