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Gene JAK2
Variant R1063H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R1063H lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). R1063H results in increased Epo-induced growth, Stat5 phosphorylation and transcriptional activity, and Epo-dependent and independent hematopoietic colony formation in-vitro as compared to wild-type Jak2 in culture (PMID: 27389715).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R1063H

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Transcript NM_004972.4
gDNA chr9:g.5126343G>A
cDNA c.3188G>A
Protein p.R1063H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.1 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_001322194 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_004972 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_001322195 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_001322196 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5126343G>A c.3188G>A p.R1063H RefSeq GRCh38/hg38

Filtering

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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
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 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...
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...