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| Gene | ALK |
| Variant | L1198F |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK L1198F lies within the protein kinase domain of the Alk protein (UniProt.org). L1198F confers a gain of function to the Alk protein as demonstrated by increased Alk kinase activity and downstream Pi3k and Mapk pathway activation (PMID: 21596819). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK L1198F ALK mutant ALK L1198X ALK L1198F |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220759G>A |
| cDNA | c.3592C>T |
| Protein | p.L1198F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.5 | chr2:g.29220759G>A | c.3592C>T | p.L1198F | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29220759G>A | c.3592C>T | p.L1198F | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29220759G>A | c.3592C>T | p.L1198F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ALK L1198F | Advanced Solid Tumor | predicted - sensitive | TPX-0131 | Preclinical - Biochemical | Actionable | In a preclinical study, TPX-0131 inhibited kinase activity of ALK L1198F in an in vitro assay (PMID: 34158340). | 34158340 |