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Gene JAK2
Variant L902Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 L902Q lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). L902Q does not result in cytokine-independent growth and is associated with resistance to Jak2 inhibitors in the context of JAK2 V617F in culture (PMID: 39091915), but has not been fully biochemically characterized and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 L902Q

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Transcript NM_004972.4
gDNA chr9:g.5089807T>A
cDNA c.2705T>A
Protein p.L902Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5089807T>A c.2705T>A p.L902Q RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5089807T>A c.2705T>A p.L902Q RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5089807T>A c.2705T>A p.L902Q RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5089807T>A c.2705T>A p.L902Q 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 )
  • 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")

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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 essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (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...