JAK1 E897K
Gene Variant Detail

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Gene JAK1
Variant E897K
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK1 E897K lies within protein kinase domain 2 of the Jak1 protein (UniProt). E897K results in constitutive Jak1 phosphorylation, and increased phosphorylation of Stat5 and Erk in culture (PMID: 21393331), and therefore, is predicted to lead a gain of Jak1 protein function.
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 E897K

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Transcript NM_002227.4
gDNA chr1:g.64839756C>T
cDNA c.2689G>A
Protein p.E897K
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.