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Gene JAK2
Variant Q656A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 Q656A lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). Q656A disrupts Jak2 autoinhibition and leads to increased enzymatic activity and ATP and Stat5 affinity in in vitro assays, increased Jak2 activity, and increased cytokine-dependent and -independent Stat5 activation in culture (PMID: 36529225).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 Q656A

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Transcript NM_004972.4
gDNA chr9:g.5077554_5077555delCAinsGC
cDNA c.1966_1967delCAinsGC
Protein p.Q656A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.4 chr9:g.5077554_5077555delCAinsGC c.1966_1967delCAinsGC p.Q656A RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5077554_5077555delCAinsGC c.1966_1967delCAinsGC p.Q656A RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5077554_5077555delCAinsGC c.1966_1967delCAinsGC p.Q656A RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5077554_5077555delCAinsGC c.1966_1967delCAinsGC p.Q656A 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References