Gene Variant Detail

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Gene ALK
Variant F1174V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ALK F1174V lies within the protein kinase domain of the Alk protein (UniProt.org). F1174V is predicted to confer a gain of function to the Alk protein as indicated by constitutive activation of the Alk protein in cell culture (PMID: 21242967), and has been demonstrated to occur as a secondary resistance mutation in the context of ALK fusions (PMID: 24675041).
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK F1174X ALK F1174V

ALK mutant ALK act mut ALK F1174V

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Transcript NM_004304.4
gDNA chr2:g.29220831A>C
cDNA c.3520T>G
Protein p.F1174V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29220831A>C c.3520T>G p.F1174V RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29220831A>C c.3520T>G p.F1174V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK F1174V neuroblastoma sensitive Brigatinib Preclinical - Cell culture Actionable In a preclinical study, neuroblastoma cells harboring ALK F1174V were sensitive to Alunbrig (brigatinib) in culture and in vivo, resulting in inhibition of both Alk activity and cell proliferation (PMID: 27049722). 27049722
ALK F1174V neuroblastoma predicted - sensitive Crizotinib Case Reports/Case Series Actionable In a Phase I/II trial (ADVL0912), Xalkori (crizotinib) treatment resulted in an objective response of 15% (3/20) in pediatric patients with relapsed/refractory neuroblastoma harboring ALK activating mutations or amplifications, a patient harboring ALK F1174V stayed on treatment for 3 cycles until disease progression (PMID: 33568345; NCT00939770). 33568345
ALK F1174V neuroblastoma predicted - resistant Repotrectinib Preclinical - Pdx Actionable In a preclinical study, a neuroblastoma patient-derived xenograft (PDX) model harboring ALK F1174V was resistant to treatment with Repotrectinib (TPX-0005) (PMID: 34482287). 34482287
ALK F1174V neuroblastoma predicted - sensitive Irinotecan + Repotrectinib + Temozolomide Preclinical - Pdx Actionable In a preclinical study, combination treatment with Repotrectinib (TPX-0005), Camptosar (irinotecan), and Temodar (temozolomide) resulted in inhibition of tumor growth in a patient-derived xenograft (PDX) model of neuroblastoma harboring ALK F1174V (PMID: 34482287). 34482287