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| Gene | ALK |
| Variant | del exon4-11 |
| Impact List | deletion |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK del exon4-11 indicates the deletion of exons 4-11 in the extracellular domain of the ALK gene (PMID: 23139213). Del exon4-11 does not demonstrate increased downstream pathway activation compared to wild-type ALK in one study, but confers a gain of function to Alk as demonstrated by increased kinase activity in an in vitro assay, increased proliferation and anchorage-independent growth in cultured cells, and tumor formation in a mouse model (PMID: 23139213), and in another study leads to increased downstream signaling and neurite outgrowth in cultured cells (PMID: 25251827). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK del exon4-11 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ALK del exon4-11 | gain of function |