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Gene JAK2
Variant K539I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 K539I does not lie within any known functional domains of the Jak2 protein (Uniprot.org). K539I confers a gain of function to the Jak2 protein as demonstrated by increased kinase activity, activation of Stat5, Erk, and Akt, and is transforming in cell culture (PMID: 19638629).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 K539I

JAK2 mutant JAK2 exon12 JAK2 K539I

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Transcript NM_004972.4
gDNA chr9:g.5070027A>T
cDNA c.1616A>T
Protein p.K539I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322204.1 chr9:g.5078376_5078377delAGinsTC c.1616_1617delAGinsTC p.K539I RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_004972 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322204 chr9:g.5078376_5078377delAGinsTC c.1616_1617delAGinsTC p.K539I RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5078376_5078377delAGinsTC c.1616_1617delAGinsTC p.K539I RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 exon12 polycythemia vera not applicable N/A Guideline Diagnostic JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (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...
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...