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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 in an in vitro assay and increased Akt and Erk phosphorylation, cell invasion, and transformation in culture (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 | chr2:g.29220759G>A | c.3592C>T | p.L1198F | RefSeq | GRCh38/hg38 |
| 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 |