Gene Variant Detail

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Gene MPL
Variant W515K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MPL W515K lies within the cytoplasmic domain of the Mpl protein (UniProt.org). W515K results in activation of Mpl signaling as indicated by constitutive activation of Jak/Stat, Ras/Mapk, and Pi3k signaling (PMID: 26450985), is transforming in cell culture (PMID: 18528423, PMID: 26437785), and induces tumor formation in mice (PMID: 18528423).
Associated Drug Resistance

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Transcript NM_005373
gDNA chr1:g.43349337_43349338delTGinsAA
cDNA c.1543_1544delTGinsAA
Protein p.W515K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005373 chr1:g.43349337_43349338delTGinsAA c.1543_1544delTGinsAA p.W515K 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MPL W515K myelofibrosis sensitive Everolimus Phase II Actionable In a phase II study of patients with myelofibrosis, 2/2 patients with MPL W515L/K had tumor response to everolimus, with one patient displaying clinical benefit (PMID: 21725052). 21725052
MPL W515K myelofibrosis not applicable N/A Guideline Prognostic MPL W515K is associated with intermediate prognosis and higher risk of thrombosis when compared to the presence of CALR mutations in patients with primary myelofibrosis (NCCN.org). detail...