Gene Variant Detail

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Gene ALK
Variant R1192P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK R1192P lies within the protein kinase domain of the Alk protein (UniProt.org). R1192P confers a gain of function to the Alk protein as demonstrated by increased downstream signalling (PMID: 21838707), activation in in vitro assays (PMID: 33674381, PMID: 25517749), and transformation of cultured cells (PMID: 21838707, PMID: 33674381, PMID: 25517749).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK R1192P

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Transcript NM_004304.4
gDNA chr2:g.29220776C>G
cDNA c.3575G>C
Protein p.R1192P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.4 chr2:g.29220776C>G c.3575G>C p.R1192P RefSeq GRCh38/hg38
NM_004304 chr2:g.29220776C>G c.3575G>C p.R1192P 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 R1192P Advanced Solid Tumor sensitive Brigatinib Preclinical - Cell culture Actionable In a preclinical study, a transformed cell line expressing ALK R1192P was sensitive to Alunbrig (brigatinib) in culture, resulting in cell growth inhibition (PMID: 27049722). 27049722
ALK R1192P malignant pheochromocytoma no benefit Alectinib + Octreotide Case Reports/Case Series Actionable In a clinical case study, addition of Alecensa (alectinib) to Octreotide treatment did not lead to a response in a patient with malignant pheochromocytoma harboring ALK R1192P, with a radiological stable disease after 1 month of treatment and disease progression after 5 months of treatment (PMID: 34371380). 34371380
ALK R1192P malignant pheochromocytoma predicted - sensitive Brigatinib Case Reports/Case Series Actionable In a clinical case study, Alunbrig (brigatinib) treatment resulted in a partial response (PR) after 2 months of therapy and a sustained PR at 10 months in a patient with malignant pheochromocytoma harboring ALK R1192P (PMID: 34371380). 34371380
ALK R1192P Advanced Solid Tumor sensitive Repotrectinib Preclinical - Cell culture Actionable In a preclinical study, Repotrectinib (TPX-0005) decreased Alk phosphorylation and neurite outgrowth in cells expressing ALK R1192P in culture (PMID: 31852910). 31852910