Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | JAK2 |
Variant | K882R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | JAK2 K882R lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). K882R demonstrates increased protein stability, and loss of kinase activity, Epo-induced activation of Jak2, and reduced cytokine-induced colony formation compared to wild-type Jak2 in culture (PMID: 17024180, PMID: 18160720). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 inact mut JAK2 K882R |
Transcript | NM_004972.4 |
gDNA | chr9:g.5089747A>G |
cDNA | c.2645A>G |
Protein | p.K882R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322196.1 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 inact mut | melanoma | predicted - resistant | Pembrolizumab | Case Reports/Case Series | Actionable | In a clinical study, a melanoma patient treated with Keytruda (pembrolizumab) initially demonstrated a partial response, however, post 734 days developed disease progression due to a splice site mutation in JAK2, which resulted in an intron inclusion and an early stop codon, leading to a loss of protein expression (PMID: 27433843). | 27433843 |
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... |
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 | 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... |