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Gene JAK2
Variant Q656G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 Q656G lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). Q656G disrupts Jak2 autoinhibition and leads to increased enzymatic activity and ATP and Stat5 affinity in in vitro assays, increased cell proliferation, and constitutive Stat5 activation in culture (PMID: 36529225).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 Q656G

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Transcript NM_004972.4
gDNA chr9:g.5077554_5077555delCAinsGG
cDNA c.1966_1967delCAinsGG
Protein p.Q656G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5077554_5077555delCAinsGG c.1966_1967delCAinsGG p.Q656G RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5077554_5077555delCAinsGG c.1966_1967delCAinsGG p.Q656G RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5077554_5077555delCAinsGG c.1966_1967delCAinsGG p.Q656G RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5077554_5077555delCAinsGG c.1966_1967delCAinsGG p.Q656G 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 Q656G gain of function