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JAK2 K539I - Gene Variant Detail

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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
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 K539I

JAK2 mutant JAK2 exon12 JAK2 K539I

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Transcript NM_004972.4
gDNA chr9:g.5070027A>T
cDNA c.1616A>T
Protein p.K539I
Source Database RefSeq
Genome Build 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

  • 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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