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| Gene | ALK |
| Variant | F1174C |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK F1174C lies within the protein kinase domain of the Alk protein (UniProt.org). F1174C confers a gain of function to Alk, as indicated by constitutive Alk phosphorylation (PMID: 24509625), and increased cell viability in culture (PMID: 29559559). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK F1174C ALK mutant ALK F1174X ALK F1174C |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220830A>C |
| cDNA | c.3521T>G |
| Protein | p.F1174C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29220830A>C | c.3521T>G | p.F1174C | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29220830A>C | c.3521T>G | p.F1174C | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29220830A>C | c.3521T>G | p.F1174C | RefSeq | GRCh38/hg38 |