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Gene JAK2
Variant Q656E
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions JAK2 Q656E lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). Q656E demonstrates enzymatic activity and ATP and Stat5 affinity similar to wild-type Jak2 in in vitro assays, and leads to cell proliferation and cytokine-dependent and -independent Stat5 activation similar to wild-type in culture (PMID: 36529225), and therefore, is predicted to have no effect on Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 Q656E

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Transcript NM_004972.4
gDNA chr9:g.5077554C>G
cDNA c.1966C>G
Protein p.Q656E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5077554C>G c.1966C>G p.Q656E RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5077554C>G c.1966C>G p.Q656E RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5077554C>G c.1966C>G p.Q656E RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5077554C>G c.1966C>G p.Q656E 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
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...
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...