JAK2 E864K
Gene Variant Detail

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Gene JAK2
Variant E864K
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 E864K lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). E864K results in increased Jak2 and Stat5 phosphorylation and prevents apoptosis in the presence of a Jak inhibitor (PMID: 22916261), and has been described as a secondary drug resistance mutation in the context of other Jak2 activating mutations (PMID: 22916261, PMID: 22271575), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 E864K

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Transcript NM_004972.4
gDNA chr9:g.5089692G>A
cDNA c.2590G>A
Protein p.E864K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322194 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_004972 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322195 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322196 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References