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| Gene | ALK |
| Variant | L1204F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK L1204F lies within the protein kinase domain of the Alk protein (UniProt.org). L1204F is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK L1204F |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220741G>A |
| cDNA | c.3610C>T |
| Protein | p.L1204F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |