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Gene ALK
Variant I1171T
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK I1171T lies within the protein kinase domain of the Alk protein (UniProt.org). I1171T confers a gain of function on the Alk protein as indicated by ligand-independent autophosphorylation, activation of Erk1/2, and cell transformation (PMID: 29907598), and has been demonstrated to confer drug resistance in the context of ALK fusions in culture (PMID: 27009859).
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK act mut ALK I1171T

ALK mutant ALK I1171X ALK I1171T

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Transcript NM_004304.5
gDNA chr2:g.29222347A>G
cDNA c.3512T>C
Protein p.I1171T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29222347A>G c.3512T>C p.I1171T RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29222347A>G c.3512T>C p.I1171T RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29222347A>G c.3512T>C p.I1171T RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK I1171T ganglioneuroblastoma predicted - sensitive Ceritinib Case Reports/Case Series Actionable In a clinical case study, Zykadia (ceritinib) treatment resulted in a 43.6% decrease of the primary tumor after 6.5 months of treatment, and complete resolution of metastases at 21 months after initiation of treatment in a pediatric patient with ganglioneuroblastoma harboring ALK I1171T (PMID: 29907598). 29907598