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Gene ALK
Variant G1269A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ALK G1269A lies within the protein kinase domain of the Alk protein (UniProt.org). G1269A has been demonstrated to occur as a secondary resistance mutation in the context of ALK rearrangement (PMID: 30675302, PMID: 35123209, PMID: 29872693), 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 G1269A

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Transcript NM_004304.5
gDNA chr2:g.29209816C>G
cDNA c.3806G>C
Protein p.G1269A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29209816C>G c.3806G>C p.G1269A RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29209816C>G c.3806G>C p.G1269A RefSeq GRCh38/hg38
NM_004304 chr2:g.29209816C>G c.3806G>C p.G1269A 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 G1269A Advanced Solid Tumor sensitive Brigatinib Preclinical - Cell culture Actionable In a preclinical study, a transformed cell line expressing ALK G1269A was sensitive to Alunbrig (brigatinib) in culture, resulting in cell growth inhibition (PMID: 27049722). 27049722
ALK G1269A Advanced Solid Tumor sensitive Lorlatinib Preclinical - Cell culture Actionable In a preclinical study, Lorbrena (lorlatinib) treatment inhibited Alk phosphorylation and viability in transformed cells expressing ALK G1269A in culture (PMID: 27483357). 27483357
ALK G1269A Advanced Solid Tumor predicted - sensitive TPX-0131 Preclinical - Biochemical Actionable In a preclinical study, TPX-0131 inhibited kinase activity of ALK G1269A in an in vitro assay (PMID: 34158340). 34158340
ALK G1269A Advanced Solid Tumor predicted - sensitive APG-2449 Preclinical - Biochemical Actionable In a preclinical study, APG-2449 inhibited the kinase activity of ALK G1269A in culture (PMID: 35820889). 35820889