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JAK2 L884P - Gene Variant Detail

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Gene JAK2
Variant L884P
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 L884P lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). L884P results in cytokine-independent growth in culture (PMID: 26175414), and has been demonstrated to confer resistance to Jak2 inhibitors in cultured cells (PMID: 26175414, PMID: 37290440), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 L884P

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Transcript NM_004972.4
gDNA chr9:g.5089753T>C
cDNA c.2651T>C
Protein p.L884P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5089753T>C c.2651T>C p.L884P RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5089753T>C c.2651T>C p.L884P RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5089753T>C c.2651T>C p.L884P RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5089753T>C c.2651T>C p.L884P RefSeq 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.

Molecular Profile Protein Effect Treatment Approaches
JAK2 L884P gain of function - predicted
JAK2 R683G JAK2 L884P