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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 |
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_001322196 | 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_004972.3 | 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 |
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_004972 | 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_001322195 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322194.1 | 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_001322194.2 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 | essential thrombocythemia | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of essential thrombocythemia (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... |