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Gene JAK2
Variant F556K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 F556K lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). F556K confers a gain of function to the Jak2 protein as demonstrated by increased enzymatic activity and Stat5 binding, cytokine-independent Stat5 activation, and transformation of cultured cells (PMID: 29842959).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 F556K

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Transcript NM_004972.4
gDNA chr9:g.5072516_5072518delTTTinsAAG
cDNA c.1666_1668delTTTinsAAG
Protein p.F556K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072516_5072518delTTTinsAAG c.1666_1668delTTTinsAAG p.F556K RefSeq GRCh38/hg38

Filtering

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  • 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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  • 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
JAK2 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). detail...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). detail...
JAK2 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...