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Gene JAK2
Variant H538Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 H538Q does not lie within any known functional domains of the Jak2 protein (UniProt.org). H538Q results in increased proliferation, Jak2 phosphorylation, and downstream Stat5 phosphorylation in combination with K539L in culture (PMID: 22584586, PMID: 17267906), but has not been individually characterized and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 H538Q

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Transcript NM_004972.4
gDNA chr9:g.5070025C>A
cDNA c.1614C>A
Protein p.H538Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.1 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_004972 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070025C>A c.1614C>A p.H538Q RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 exon12 polycythemia vera not applicable N/A Guideline Diagnostic JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (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 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...