JAK2 E484K
Gene Variant Detail

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Gene JAK2
Variant E484K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 E484K does not lie within any known functional domains of the Jak2 protein (UniProt.org). E484K has been identified in sequencing studies (PMID: 28028924), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Sep 2025).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 E484K

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Transcript NM_004972.4
gDNA chr9:g.5069145G>A
cDNA c.1450G>A
Protein p.E484K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.1 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322198 chr9:g.5089767G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322194 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_004972 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322198.1 chr9:g.5089767G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322198.2 chr9:g.5089767G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322195 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322199.2 chr9:g.5089767G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322199 chr9:g.5089767G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322199.1 chr9:g.5089767G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322196 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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