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Gene JAK2
Variant I540N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 I540N does not lie within any known functional domains of the Jak2 protein (UniProt.org). I540N has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 I540N

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Transcript NM_004972.4
gDNA chr9:g.5070030T>A
cDNA c.1619T>A
Protein p.I540N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_004972 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070030T>A c.1619T>A p.I540N 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 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...
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...