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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

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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_001322196.1 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_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 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_001322194.2 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
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_001322194 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

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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...