Gene Variant Detail

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Gene ALK
Variant R1275Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK R1275Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1275Q confers a gain of function to the Alk protein as demonstrated by transformation activity in cell culture and increased downstream signalling in in vitro assays (PMID: 21838707, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK R1275Q

ALK mutant ALK R1275X ALK R1275Q

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Transcript NM_004304.4
gDNA chr2:g.29209798C>T
cDNA c.3824G>A
Protein p.R1275Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29209798C>T c.3824G>A p.R1275Q RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29209798C>T c.3824G>A p.R1275Q 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"

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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 F1174L ALK R1275Q neuroblastoma predicted - sensitive Crizotinib Case Reports/Case Series Actionable In a Phase I/II trial (ADVL0912), Xalkori (crizotinib) treatment resulted in an objective response of 15% (3/20) in pediatric patients with relapsed/refractory neuroblastoma harboring ALK activating mutations or amplifications, a patient harboring both ALK F1174V and ALK R1275Q stayed on treatment for 3 cycle until disease progression (PMID: 33568345; NCT00939770). 33568345
EML4 - ALK ALK R1275Q Advanced Solid Tumor sensitive TQ-B3139 Preclinical - Cell culture Actionable In a preclinical study, TQ-B3139 (CT-711) inhibited proliferation of cells expressing EML4-ALK with ALK R1275Q in culture (PMID: 30210922). 30210922
EML4 - ALK ALK R1275Q Advanced Solid Tumor sensitive APG-2449 Preclinical - Cell culture Actionable In a preclinical study, APG-2449 inhibited proliferation of cells expressing EML4-ALK with ALK R1275Q in culture (PMID: 35820889). 35820889