Gene Variant Detail

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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: 28434515, PMID: 29872693), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2022).
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK G1269A

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Transcript NM_004304.4
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 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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 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