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Gene JAK2
Variant V617F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 V617F lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). V617F results in constitutive activation of Jak2 and downstream Stat5 and Erk, is transforming in cell culture, and leads to development of erythrocytosis in mouse models (PMID: 15858187, PMID: 15837627, PMID: 15793561, PMID: 28473624).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 V617F

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Transcript NM_004972.4
gDNA chr9:g.5073770G>T
cDNA c.1849G>T
Protein p.V617F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322194 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322195 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322196 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_004972 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5073770G>T c.1849G>T p.V617F 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 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...