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| Gene | APC |
| Variant | L1489Yfs*18 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | APC L1489Yfs*18 indicates a shift in the reading frame starting at amino acid 1489 and terminating 18 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1489Yfs*18 has not been characterized, however, due to the effects of other truncation mutations downstream of L1489 (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 L1489fs APC L1489Yfs*18 |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112840060delT |
| cDNA | c.4466delT |
| Protein | p.L1489Yfs*18 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407469.1 | chr5:g.112840445_112840446insTACCCCCCCCCCA | c.4464_4465insTACCCCCCCCCCA | p.L1489Yfs*18 | RefSeq | GRCh38/hg38 |
| NM_001407450.1 | chr5:g.112840060delT | c.4466delT | p.L1489Yfs*18 | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.112840060delT | c.4466delT | p.L1489Yfs*18 | RefSeq | GRCh38/hg38 |
| NM_001354895.2 | chr5:g.112840060delT | c.4466delT | p.L1489Yfs*18 | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.112840060delT | c.4466delT | p.L1489Yfs*18 | RefSeq | GRCh38/hg38 |
| NM_001407467.1 | chr5:g.112840445_112840446insTACCCCCCCCCCA | c.4464_4465insTACCCCCCCCCCA | p.L1489Yfs*18 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|