Gene Detail

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Gene Symbol JAK2
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).

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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.