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Gene Symbol JAK2
Synonyms JTK10
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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
3717 9 9p24.1 NM_004972 Oncogene (PMID: 30606230)

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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.
exon12 unknown unknown JAK2 exon 12 indicates an unspecified mutation has occurred in exon 12 (amino acids 505-547) of the JAK2 gene.
fusion fusion unknown JAK2 fusion indicates a fusion of the JAK2 gene, but the fusion partner is unknown.
G614fs frameshift loss of function - predicted JAK2 G614fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 614 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org, PMID: 16879967), G614fs is predicted to lead to a loss of Jak2 protein function.
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.
L609fs frameshift loss of function - predicted JAK2 L609fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 609 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org, PMID: 16879967), L609fs is predicted to lead to a loss of Jak2 protein function.
L611fs frameshift loss of function - predicted JAK2 L611fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 611 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org, PMID: 16879967), L611fs is predicted to lead to a loss of Jak2 protein function.
mutant unknown unknown JAK2 mutant indicates an unspecified mutation in the JAK2 gene.
N612fs frameshift loss of function - predicted JAK2 N612fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 612 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org, PMID: 16879967), N612fs is predicted to lead to a loss of Jak2 protein function.
rearrange unknown unknown JAK2 rearrange indicates an unspecified rearrangement of the JAK2 gene.
V881fs frameshift unknown JAK2 V881fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 881 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). V881fs has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Oct 2023).
Y613fs frameshift loss of function - predicted JAK2 Y613fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 613 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org, PMID: 16879967), Y613fs is predicted to lead to a loss of Jak2 protein function.