Gene Variant Detail

Gene JAK2
Variant K539L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 K539L lies within the protein kinase 1 (JH2, pseudokinase) domain of the Jak2 protein (PMID: 30092288). K539L confers a gain of function to the Jak2 protein as demonstrated by increased cell proliferation (PMID: 17267906, PMID: 21362419) and cytokine-independent phosphorylation of Jak2, Stat5, and Stat1 (PMID: 17267906, PMID: 30092288).
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5070026_5070027delAAinsCT
cDNA c.1615_1616delAAinsCT
Protein p.K539L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322204 chr9:g.5078375_5078376delAAinsCT c.1615_1616delAAinsCT p.K539L RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070026_5070027delAAinsCT c.1615_1616delAAinsCT p.K539L RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070026_5070027delAAinsCT c.1615_1616delAAinsCT p.K539L RefSeq GRCh38/hg38
NM_004972 chr9:g.5070026_5070027delAAinsCT c.1615_1616delAAinsCT p.K539L RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070026_5070027delAAinsCT c.1615_1616delAAinsCT p.K539L 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

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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