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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 |
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 |
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 |