ALK I1170N
Gene Variant Detail

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Gene ALK
Variant I1170N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK I1170N lies within the protein kinase domain of the Alk protein (UniProt.org). I1170N confers a gain of function to Alk as demonstrated by increased kinase activity in in vitro assays and transformation in cultured cells (PMID: 33674381, PMID: 25517749).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK I1170N

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Transcript NM_004304.5
gDNA chr2:g.29222350A>T
cDNA c.3509T>A
Protein p.I1170N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.4 chr2:g.29222350A>T c.3509T>A p.I1170N RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29222350A>T c.3509T>A p.I1170N RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK I1170N neuroblastoma predicted - sensitive Lorlatinib Case Reports/Case Series Actionable In a retrospective analysis, Lorbrena (lorlatinib) treatment resulted in complete remission in a neuroblastoma patient harboring ALK I1170N (PMID: 38787533; NCT04477681). 38787533