ALK C1237Y
Gene Variant Detail

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Gene ALK
Variant C1237Y
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ALK C1237Y lies within the protein kinase domain of the Alk protein (UniProt.org). C1237Y 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 C1237Y

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Transcript NM_004304.5
gDNA chr2:g.29214017C>T
cDNA c.3710G>A
Protein p.C1237Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29214017C>T c.3710G>A p.C1237Y RefSeq GRCh38/hg38

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  • 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