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Gene | JAK2 |
Variant | K883E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 K883E lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). K883E confers a gain of function to Jak2 as demonstrated by increased Jak2 phosphorylation in cell culture (PMID: 24918548) and constitutive activation of STAT5 transcription in a reporter assay (PMID: 27029346). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 K883E |
Transcript | NM_004972.4 |
gDNA | chr9:g.5089749A>G |
cDNA | c.2647A>G |
Protein | p.K883E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004972.3 | chr9:g.5089749A>G | c.2647A>G | p.K883E | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5089749A>G | c.2647A>G | p.K883E | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5089749A>G | c.2647A>G | p.K883E | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5089749A>G | c.2647A>G | p.K883E | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5089749A>G | c.2647A>G | p.K883E | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5089749A>G | c.2647A>G | p.K883E | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5089749A>G | c.2647A>G | p.K883E | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5089749A>G | c.2647A>G | p.K883E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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