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Gene JAK2
Variant E890*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions JAK2 E890* results in a premature truncation of the Jak2 protein at amino acid 890 of 1132 (UniProt.org). E890* has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 E890*

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Transcript NM_004972.4
gDNA chr9:g.5089770G>T
cDNA c.2668G>T
Protein p.E890*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_004972 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_001322194 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_001322196 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5089770G>T c.2668G>T p.E890* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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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 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 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...