Gene Variant Detail

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Gene JAK2
Variant I540T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 I540T does not lie within any known functional domains of the Jak2 protein (UniProt.org). I540T has been identified in sequencing studies (PMID: 21497288), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Apr 2021).
Associated Drug Resistance

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Transcript NM_004972.3
gDNA chr9:g.5070030T>C
cDNA c.1619T>C
Protein p.I540T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_004972 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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...
Molecular Profile Protein Effect Treatment Approaches
JAK2 I540T unknown