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Gene JAK2
Variant K883E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 K883E lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). K883E confers a gain of function to Jak2 as demonstrated by increased Jak2 phosphorylation in cell culture (PMID: 24918548) and constitutive activation of STAT5 transcription in a reporter assay (PMID: 27029346).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 K883E

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Transcript NM_004972.4
gDNA chr9:g.5089749A>G
cDNA c.2647A>G
Protein p.K883E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5089749A>G c.2647A>G p.K883E RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5089749A>G c.2647A>G p.K883E RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5089749A>G c.2647A>G p.K883E RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5089749A>G c.2647A>G p.K883E RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5089749A>G c.2647A>G p.K883E RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5089749A>G c.2647A>G p.K883E RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5089749A>G c.2647A>G p.K883E RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5089749A>G c.2647A>G p.K883E 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References