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Gene JAK2
Variant Y790E
Impact List missense
Protein Effect no effect
Gene Variant Descriptions JAK2 Y790E lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). Y790E results in Epo-induced activation of Jak2 and cytokine-induced colony formation similar to wild-type Jak2 in culture (PMID: 18160720).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 Y790E

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Transcript NM_004972.4
gDNA chr9:g.5080617_5080619delTATinsGAG
cDNA c.2368_2370delTATinsGAG
Protein p.Y790E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_004972 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_001322195 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_001322196 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E RefSeq GRCh38/hg38
NM_001322194 chr9:g.5080617_5080619delTATinsGAG c.2368_2370delTATinsGAG p.Y790E 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 )
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References