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Gene | ALK |
Variant | F1174S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK F1174S lies within the protein kinase domain of the Alk protein (UniProt.org). F1174S results in ligand-independent activation of the Alk protein and increased Erk phosphorylation in culture (PMID: 21059859), activation in an in vitro assay (PMID: 33674381), and transformation of cells in culture (PMID: 21059859, PMID: 33674381, PMID: 29084134). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK F1174S ALK mutant ALK F1174X ALK F1174S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220830A>G |
cDNA | c.3521T>C |
Protein | p.F1174S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220830A>G | c.3521T>C | p.F1174S | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220830A>G | c.3521T>C | p.F1174S | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220830A>G | c.3521T>C | p.F1174S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK F1174S | Advanced Solid Tumor | predicted - sensitive | TPX-0131 | Preclinical - Biochemical | Actionable | In a preclinical study, TPX-0131 inhibited kinase activity of ALK F1174S in an in vitro assay (PMID: 34158340). | 34158340 |