Gene Variant Detail

Gene JAK2
Variant N542_E543del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions JAK2 N542_E543del is an exon 12 deletion that results in the deletion of two amino acids in the kinase domain of the Jak2 protein from amino acids 542 to 543 (PMID: 17267906). N542_E543del confers a gain of function to the Jak2 protein as demonstrated by increased proliferation, Jak2 phosphorylation, and downstream Stat5 phosphorylation (PMID: 17267906).
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5070035_5070040delAATGAA
cDNA c.1624_1629delAATGAA
Protein p.N542_E543delNE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322198 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_004972 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322199 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322204 chr9:g.5078384_5078389delAATCCT c.1624_1629delAATCCT p.N542_P543delNP RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References