ALK L1196P
Gene Variant Detail

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Gene ALK
Variant L1196P
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ALK L1196P lies within the protein kinase domain of the Alk protein (UniProt.org). L1196P results in increased Alk autophosphorylation and cell proliferation in the context of EML4-ALK compared to expression of EML4-ALK alone in culture (PMID: 38448512), and has also been demonstrated to confer resistance to Alk inhibitors in the context of EML4-ALK (PMID: 38448512), and therefore, is predicted to lead to a gain of Alk protein function.
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK act mut ALK L1196P

ALK mutant ALK L1196X ALK L1196P

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Transcript NM_004304.5
gDNA chr2:g.29220764A>G
cDNA c.3587T>C
Protein p.L1196P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29220764A>G c.3587T>C p.L1196P 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References