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Gene | ALK |
Variant | F1174I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK F1174I lies within the protein kinase domain of the Alk protein (UniProt.org). F1174I results in ligand-independent phosphorylation of the Alk protein, activation of Erk, Stat3 pathways, and is transforming in cell culture (PMID: 23104988). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK F1174I ALK mutant ALK F1174X ALK F1174I |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220831A>T |
cDNA | c.3520T>A |
Protein | p.F1174I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220831A>T | c.3520T>A | p.F1174I | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220831A>T | c.3520T>A | p.F1174I | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220831A>T | c.3520T>A | p.F1174I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK F1174I | Advanced Solid Tumor | sensitive | Lorlatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lorbrena (lorlatinib) treatment inhibited Alk phosphorylation and viability in transformed cells expressing ALK F1174I in culture (PMID: 27483357). | 27483357 |