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ALK R1275L - Gene Variant Detail

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Gene ALK
Variant R1275L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ALK R1275L lies within the protein kinase domain of the Alk protein (UniProt.org). R1275L has been identified in the scientific literature (PMID: 27888620), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK R1275X ALK R1275L

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Transcript NM_004304.5
gDNA chr2:g.29209798C>A
cDNA c.3824G>T
Protein p.R1275L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29209798C>A c.3824G>T p.R1275L RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29209798C>A c.3824G>T p.R1275L RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29209798C>A c.3824G>T p.R1275L RefSeq GRCh38/hg38

Filtering

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  • 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 )
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  • 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
ALK R1275L neuroblastoma predicted - sensitive Crizotinib Case Reports/Case Series Actionable In a Phase I/II trial, Xalkori (crizotinib) treatment was well-tolerated and resulted in stable disease in a pediatric patient with neuroblastoma harboring ALK R1275L who stayed on treatment for 4 cycles (PMID: 23598171; NCT00939770). 23598171