Gene Variant Detail

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Gene ALK
Variant L1196Q
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ALK L1196Q lies within the protein kinase domain of the Alk protein (UniProt.org). L1196Q is predicted to confer a gain of function on the Alk protein as indicated by increased phosphorylation of Alk (PMID: 25749034) and has been demonstrated to confer resistance to Alk inhibitors in the context of NPM1-ALK in culture (PMID: 25749034, PMID: 23239810).
Associated Drug Resistance Y

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Transcript NM_004304
gDNA chr2:g.29220764A>T
cDNA c.3587T>A
Protein p.L1196Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29220764A>T c.3587T>A p.L1196Q 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
NPM1 - ALK ALK L1196Q anaplastic large cell lymphoma resistant Crizotinib Preclinical - Cell culture Actionable In a preclinical study, human anaplastic large cell lymphoma cell lines harboring NPM1-ALK containing ALK L1196Q were resistant to Xalkori (crizotinib) in culture (PMID: 25749034). 25749034
NPM1 - ALK ALK L1196Q anaplastic large cell lymphoma sensitive ASP3026 Preclinical - Cell culture Actionable In a preclinical study, ASP3026 inhibited growth of human anaplastic large cell lymphoma cell lines harboring NPM1-ALK containing the crizotinib-resistant mutation ALK L1196Q in culture (PMID: 25749034). 25749034
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK mutant lung non-small cell carcinoma no benefit Crizotinib + Onalespib Phase II Actionable In a Phase II trial, Onalespib (AT13387) and Xalkori (crizotinib) combination treatment did not significantly improve median progression free survival (269 vs 266 days) or objective response rate (55.4%, 38/68 vs 45.3%, 31/68) compared to Xalkori (crizotinib) single treatment in patients with non-small cell lung carcinoma harboring either an ALK mutation or ALK rearrangement (J Clin Oncol 34, 2016 (suppl; abstr 9059); NCT01712217). detail...
Molecular Profile Protein Effect Treatment Approaches
ALK L1196Q gain of function - predicted ALK Inhibitor
NPM1 - ALK ALK L1196Q ASP3026