Gene Variant Detail

Gene JAK2
Variant K539I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 K539I does not lie within any known functional domains of the Jak2 protein (Uniprot.org). K539I confers a gain of function to the Jak2 protein, as demonstrated by increased kinase activity, activation of Stat5, Erk, and Akt, and is transforming in cell culture (PMID: 19638629).
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5070027A>T
cDNA c.1616A>T
Protein p.K539I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_004972 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322204 chr9:g.5078376_5078377delAGinsTC c.1616_1617delAGinsTC p.K539I RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070027A>T c.1616A>T p.K539I 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

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