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Gene | JAK2 |
Variant | K539L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 K539L does not lie within any known functional domains of the Jak2 protein (UniProt.org). K539L confers a gain of function to the Jak2 protein as demonstrated by increased cell proliferation (PMID: 17267906, PMID: 21362419), and cytokine-independent phosphorylation of Jak2, Stat5, and Stat1 (PMID: 17267906, PMID: 30092288). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 K539L JAK2 mutant JAK2 exon12 JAK2 K539L |
Transcript | NM_004972.4 |
gDNA | chr9:g.5070026_5070027delAAinsCT |
cDNA | c.1615_1616delAAinsCT |
Protein | p.K539L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322196 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322204.1 | chr9:g.5078375_5078376delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322204.2 | chr9:g.5078375_5078376delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322204 | chr9:g.5078375_5078376delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5070026_5070027delAAinsCT | c.1615_1616delAAinsCT | p.K539L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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