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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 of the ALK gene (PMID: 23139213). Del exon4-11 results in downstream signaling similar to wild-type protein in cultured cells 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). |
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 |