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| Gene | ALK |
| Variant | F1174I |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK F1174I lies within the protein kinase domain of the Alk protein (UniProt.org). F1174I results in ligand-independent phosphorylation of the Alk protein, activation of Erk, Stat3 pathways, and is transforming in cell culture (PMID: 23104988). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK F1174I ALK mutant ALK F1174X ALK F1174I |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220831A>T |
| cDNA | c.3520T>A |
| Protein | p.F1174I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29220831A>T | c.3520T>A | p.F1174I | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29220831A>T | c.3520T>A | p.F1174I | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29220831A>T | c.3520T>A | p.F1174I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ALK F1174I | Advanced Solid Tumor | sensitive | Lorlatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lorbrena (lorlatinib) treatment inhibited Alk phosphorylation and viability in transformed cells expressing ALK F1174I in culture (PMID: 27483357). | 27483357 |