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Gene | ALK |
Variant | L1152R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1152R lies within the protein kinase domain of the Alk protein (UniProt.org). L1152R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 35123209, PMID: 36064579, PMID: 27091190), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK L1152R |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222404A>C |
cDNA | c.3455T>G |
Protein | p.L1152R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29222404A>C | c.3455T>G | p.L1152R | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29222404A>C | c.3455T>G | p.L1152R | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222404A>C | c.3455T>G | p.L1152R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK L1152R | Advanced Solid Tumor | predicted - sensitive | TPX-0131 | Preclinical - Biochemical | Actionable | In a preclinical study, TPX-0131 inhibited kinase activity of ALK L1152R in an in vitro assay (PMID: 34158340). | 34158340 |