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| Gene | ALK |
| Variant | L1240V |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | ALK L1240V lies within the protein kinase domain of the Alk protein (UniProt.org). L1240V results in transforming activity in cell culture (PMID: 25517749), and therefore, is predicted to lead to a gain of Alk protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK L1240V |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29214009A>C |
| cDNA | c.3718T>G |
| Protein | p.L1240V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.5 | chr2:g.29214009A>C | c.3718T>G | p.L1240V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|