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Gene ALK
Variant L1196Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ALK L1196Q lies within the protein kinase domain of the Alk protein (UniProt.org). L1196Q has been demonstrated to confer resistance to Alk inhibitors in the context of ALK rearrangements (PMID: 23239810, PMID: 25749034, PMID: 33209633), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2023).
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK L1196X ALK L1196Q

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Transcript NM_004304.5
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_004304.5 chr2:g.29220764A>T c.3587T>A p.L1196Q RefSeq GRCh38/hg38
NM_004304 chr2:g.29220764A>T c.3587T>A p.L1196Q RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29220764A>T c.3587T>A p.L1196Q 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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References