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Gene JAK2
Variant R947E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R947E lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). R947E results in increased Jak2 phosphorylation in cell culture (PMID: 24918548), and demonstrates increased activation of STAT5 transcription (PMID: 27029346), and STAT3-dependent transcription in luciferase assays (PMID: 24918548).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R947E

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Transcript NM_004972.4
gDNA chr9:g.5090523_5090524delCGinsGA
cDNA c.2839_2840delCGinsGA
Protein p.R947E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.3 chr9:g.5090523_5090524delCGinsGA c.2839_2840delCGinsGA p.R947E RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090523_5090524delCGinsGA c.2839_2840delCGinsGA p.R947E RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090523_5090524delCGinsGA c.2839_2840delCGinsGA p.R947E RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090523_5090524delCGinsGA c.2839_2840delCGinsGA p.R947E RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090523_5090524delCGinsGA c.2839_2840delCGinsGA p.R947E RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090523_5090524delCGinsGA c.2839_2840delCGinsGA p.R947E RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090523_5090524delCGinsGA c.2839_2840delCGinsGA p.R947E RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090523_5090524delCGinsGA c.2839_2840delCGinsGA p.R947E RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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...