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 | APC |
| Variant | L665Ifs*8 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | APC L665Ifs*8 indicates a shift in the reading frame starting at amino acid 665 and terminating 8 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L665Ifs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of L665 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
APC mutant APC inact mut APC L665Ifs*8 |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112837587_112837588delTT |
| cDNA | c.1993_1994delTT |
| Protein | p.L665Ifs*8 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001354895.2 | chr5:g.112837587_112837588delTT | c.1993_1994delTT | p.L665Ifs*8 | RefSeq | GRCh38/hg38 |
| NM_001407450.1 | chr5:g.112837587_112837588delTT | c.1993_1994delTT | p.L665Ifs*8 | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.112837587_112837588delTT | c.1993_1994delTT | p.L665Ifs*8 | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.112837587_112837588delTT | c.1993_1994delTT | p.L665Ifs*8 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|