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Gene JAK2
Variant E592R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions JAK2 E592R lies within the protein kinase 1 domain of the Jak2 protein (UniProt.org). E592R results in decreased Jak2-Epor dimerization, reduced Epo-induced Stat5 phosphorylation and decreased Stat1 phosphorylation in culture, and decreased IFN-gamma induced Stat1 activity and Epo-induced induced Stat5 activity compared to wild-type Jak2 in in vitro assays (PMID: 30092288).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 E592R

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Transcript NM_004972.4
gDNA chr9:g.5072624_5072625delGAinsAG
cDNA c.1774_1775delGAinsAG
Protein p.E592R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_004972 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072624_5072625delGAinsAG c.1774_1775delGAinsAG p.E592R 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
JAK2 E592R loss of function