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 | E218Tfs*7 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA E218Tfs*7 indicates a shift in the reading frame starting at amino acid 218 and terminating 7 residues downstream causing a premature truncation of the 1068 amino acid Pik3ca protein (UniProt.org). E218Tfs*7 has been identified in sequencing studies (PMID: 34476097), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA E218Tfs*7 |
Transcript | NM_006218.4 |
gDNA | chr3:g.179201378_179201379insACAA |
cDNA | c.651_652insACAA |
Protein | p.E218Tfs*7 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179201378_179201379insACAA | c.651_652insACAA | p.E218Tfs*7 | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179201378_179201379insACAA | c.651_652insACAA | p.E218Tfs*7 | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179201378_179201379insACAA | c.651_652insACAA | p.E218Tfs*7 | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179201378_179201379insACAA | c.651_652insACAA | p.E218Tfs*7 | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179201378_179201379insACAA | c.651_652insACAA | p.E218Tfs*7 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA E218Tfs*7 | unknown |