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Gene JAK2
Variant R975G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 R975G lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). R975G results in increased Jak2, Stat5, Akt and Erk phosphorylation, and has also been described as a secondary drug resistance mutation in the context of ETV6-JAK2 (PMID: 22916261), 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 R975G

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Transcript NM_004972.4
gDNA chr9:g.5090775A>G
cDNA c.2923A>G
Protein p.R975G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_004972 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). detail...
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...