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| Gene | ALK |
| Variant | F1245C |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK F1245C lies within the protein kinase domain of the Alk protein (UniProt.org). F1245C results in increased downstream signaling and is transforming in cell culture (PMID: 21838707, PMID: 25517749). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ALK mutant ALK act mut ALK F1245C ALK mutant ALK F1245X ALK F1245C |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29213993A>C |
| cDNA | c.3734T>G |
| Protein | p.F1245C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304 | chr2:g.29213993A>C | c.3734T>G | p.F1245C | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29213993A>C | c.3734T>G | p.F1245C | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29213993A>C | c.3734T>G | p.F1245C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ALK F1245C | gain of function | ALK Inhibitor |
| ALK F1245C TP53 wild-type | ||
| EML4 - ALK ALK F1245C | Ceritinib |