JAK2 H538L - Gene Variant Detail

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Gene JAK2
Variant H538L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 H538L does not lie within any known functional domains of the Jak2 protein (UniProt.org). H538L confers a gain of function to the Jak2 protein as demonstrated by increased Jak2 autophosphorylation and transformation of cells in culture (PMID: 19638629).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 H538L

JAK2 mutant JAK2 exon12 JAK2 H538L

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Transcript NM_004972.4
gDNA chr9:g.5070024A>T
cDNA c.1613A>T
Protein p.H538L
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.