JAK2 N542_E543del - Gene Variant Detail

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Gene JAK2
Variant N542_E543del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions JAK2 N542_E543del is an exon 12 deletion that results in the deletion of two amino acids of the Jak2 protein from amino acids 542 to 543 (PMID: 17267906). N542_E543del confers a gain of function to the Jak2 protein as demonstrated by increased proliferation, Jak2 phosphorylation, and downstream Stat5 phosphorylation (PMID: 17267906).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 N542_E543del

JAK2 mutant JAK2 exon12 JAK2 N542_E543del

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Transcript NM_004972.4
gDNA chr9:g.5070035_5070040delAATGAA
cDNA c.1624_1629delAATGAA
Protein p.N542_E543delNE
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.