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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 |
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_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 |
NM_001322194.2 | chr9:g.5077554C>G | c.1966C>G | p.Q656E | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5077554C>G | c.1966C>G | p.Q656E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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... |
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... |