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Gene | JAK2 |
Variant | F556V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 F556V lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). F556V confers a gain of function to the Jak2 protein as demonstrated by hypersensitivity to cytokine stimulation and cytokine-independent phosphorylation of Jak2 and Stat5 in culture (PMID: 26423830, PMID: 29842959), increased enzymatic activity, constitutively active protein conformation, and transformation of cultured cells (PMID: 29842959). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 F556V |
Transcript | NM_004972.4 |
gDNA | chr9:g.5072516T>G |
cDNA | c.1666T>G |
Protein | p.F556V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5072516T>G | c.1666T>G | p.F556V | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5072516T>G | c.1666T>G | p.F556V | 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 | 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 | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). | detail... |