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Gene JAK2
Variant E61K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 E61K lies within the FERM domain of the Jak2 protein (UniProt.org). E61K has been identified in the scientific literature (PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 E61K

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Transcript NM_004972.4
gDNA chr9:g.5022168G>A
cDNA c.181G>A
Protein p.E61K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.1 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_001322194 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_001322196 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_004972 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_001322195 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5022168G>A c.181G>A p.E61K RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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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Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK2 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). detail...
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). detail...