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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 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
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 N542_E543del

JAK2 mutant JAK2 exon12 JAK2 N542_E543del

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Transcript NM_004972.4
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_001322204.1 chr9:g.5078384_5078389delAATCCT c.1624_1629delAATCCT p.N542_P543delNP RefSeq GRCh38/hg38
NM_001322204 chr9:g.5078384_5078389delAATCCT c.1624_1629delAATCCT p.N542_P543delNP RefSeq GRCh38/hg38
NM_001322198 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5078384_5078389delAATCCT c.1624_1629delAATCCT p.N542_P543delNP RefSeq GRCh38/hg38
NM_001322199 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322198.2 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_004972.3 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322199.1 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322198.1 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_004972 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322199.2 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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