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|Synonyms||JTK10 | THCYT3|
|Gene Description||JAK2, Janus kinase 2, is a non-receptor protein tyrosine kinase that binds cytokine receptors to activate the interferon-alpha/beta/gamma pathway and is a member of the JAK/STAT signaling pathway (PMID: 15575979, PMID: 30092288). JAK2 mutations are observed in a variety of tumor types, including myeloproliferative neoplasms (PMID: 30074114), lymphoma (PMID: 29984752), leukemia (PMID: 29979407), and cervical cancer (PMID: 30003068).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||JAK2 act mut indicates that this variant results in a gain of function in the Jak2 protein. However, the specific amino acid change has not been identified.|
|fusion||fusion||unknown||JAK2 fusion indicates a fusion of the JAK2 gene, but the fusion partner is unknown.|
|inact mut||unknown||loss of function||JAK2 inact mut indicates that this variant results in a loss of function of the Jak2 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||JAK2 mutant indicates an unspecified mutation in the JAK2 gene.|
|rearrange||unknown||unknown||JAK2 rearrange indicates an unspecified rearrangement of the JAK2 gene.|