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Gene JAK2
Variant R340Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions JAK2 R340Q lies within the FERM domain of the Jak2 protein (UniProt.org). R340Q is not transforming in cell culture as demonstrated by similar proliferation levels as wild-type Jak2 (PMID: 28473624), and therefore, is predicted to have no effect on Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 R340Q

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Transcript NM_004972.4
gDNA chr9:g.5055751G>A
cDNA c.1019G>A
Protein p.R340Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_001322194 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_001322196 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_004972 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5055751G>A c.1019G>A p.R340Q RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5055751G>A c.1019G>A p.R340Q 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 myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (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 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...