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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_001322194.2 | 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_001322194 | 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_001322195 | 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_004972.3 | 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_001322195.2 | 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 | chr9:g.5089747A>G | c.2645A>G | p.K882R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 K882R | loss of function |