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Gene JAK2
Variant R683K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 R683K lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R683K demonstrates enzyme activity and Stat5 binding similar to wild-type Jak2 in one study (PMID: 23748007), but results in constitutive Jak2 and Stat5 phosphorylation, and supports cytokine-independent cell growth in another study (PMID: 18805579), and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 R683K

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Transcript NM_004972.4
gDNA chr9:g.5078361G>A
cDNA c.2048G>A
Protein p.R683K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_004972 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078361G>A c.2048G>A p.R683K RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078361G>A c.2048G>A p.R683K 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References