Gene Variant Detail

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Gene ALK
Variant V1180L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ALK V1180L lies within the protein kinase domain of the Alk protein (UniProt.org). V1180L has been demonstrated to occur as a secondary resistance mutation in the context of EML4-ALK (PMID: 25228534, PMID: 27432227, PMID: 35324529), 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 V1180X ALK V1180L

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Transcript NM_004304.5
gDNA chr2:g.29220813C>G
cDNA c.3538G>C
Protein p.V1180L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29220813C>G c.3538G>C p.V1180L RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29220813C>G c.3538G>C p.V1180L RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29220813C>G c.3538G>C p.V1180L 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 )
  • 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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK V1180L lung non-small cell carcinoma predicted - sensitive Brigatinib Case Reports/Case Series Actionable In a Phase II trial (ALTA-2), Alunbrig (brigatinib) therapy resulted in a partial response, with a progression-free survival of 11 months, in a patient with advanced non-small cell lung cancer harboring ALK V1180L who previously progressed on Alecensa (alectinib) therapy (PMID: 36096442; NCT05421936). 36096442
ALK V1180L Advanced Solid Tumor predicted - sensitive TPX-0131 Preclinical - Biochemical Actionable In a preclinical study, TPX-0131 inhibited kinase activity of ALK V1180L in an in vitro assay (PMID: 34158340). 34158340