ALK Y1278S
Gene Variant Detail

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Gene ALK
Variant Y1278S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK Y1278S is a hotspot mutation that lies within the activation loop of the Alk protein (PMID: 24060861, PMID: 25071110). Y1278S results in constitutive activation of Alk and is transforming in cell culture (PMID: 25517749, PMID: 29084134).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK Y1278S

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Transcript NM_004304.5
gDNA chr2:g.29209789T>G
cDNA c.3833A>C
Protein p.Y1278S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29209789T>G c.3833A>C p.Y1278S RefSeq GRCh38/hg38
NM_004304 chr2:g.29209789T>G c.3833A>C p.Y1278S RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29209789T>G c.3833A>C p.Y1278S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK Y1278S Advanced Solid Tumor sensitive Brigatinib Preclinical - Cell culture Actionable In a preclinical study, a transformed cell line expressing ALK Y1278S was sensitive to Alunbrig (brigatinib) in culture, resulting in cell growth inhibition (PMID: 27049722). 27049722
ALK Y1278S Advanced Solid Tumor sensitive Repotrectinib Preclinical - Cell culture Actionable In a preclinical study, Augtyro (repotrectinib) decreased Alk phosphorylation and neurite outgrowth in cells expressing ALK Y1278S in culture (PMID: 31852910). 31852910
ALK Y1278S 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 Y1278S in culture (PMID: 27483357). 27483357
ALK Y1278S neuroblastoma predicted - sensitive Lorlatinib Case Reports/Case Series Actionable In a retrospective analysis, Lorbrena (lorlatinib) treatment resulted in a partial response in a neuroblastoma patient harboring ALK Y1278S (PMID: 38787533; NCT04477681). 38787533