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 | ALK |
| Variant | F1245Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK F1245Y lies within the protein kinase domain of the Alk protein (UniProt.org). F1245Y has been identified in the scientific literature (PMID: 37012551, PMID: 30523111), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK F1245X ALK F1245Y |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29213993A>T |
| cDNA | c.3734T>A |
| Protein | p.F1245Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.5 | chr2:g.29213993A>T | c.3734T>A | p.F1245Y | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29213993A>T | c.3734T>A | p.F1245Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ALK F1245Y | neuroblastoma | predicted - sensitive | Lorlatinib | Case Reports/Case Series | Actionable | In a clinical case study, Lorbrena (lorlatinib) treatment resulted in a complete response in a patient with neuroblastoma harboring ALK F1245Y (PMID: 37147298). | 37147298 |