JAK2 R564Q
Gene Variant Detail

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Gene JAK2
Variant R564Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R564Q lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). R564Q confers a gain of function to the Jak2 protein, as demonstrated by increased kinase activity, activation of Stat1, 3, 5, Erk, and Akt, and is transforming in cell culture (PMID: 24381227).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R564Q

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Transcript NM_004972.4
gDNA chr9:g.5072541G>A
cDNA c.1691G>A
Protein p.R564Q
Source Database RefSeq
Genome Build 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.