JAK2 H608N
Gene Variant Detail

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Gene JAK2
Variant H608N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 H608N lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). H608N disrupts Jak2 autoinhibition and leads to increased enzymatic activity and ATP and Stat5 affinity in in vitro assays, increased cell proliferation, and increased cytokine-dependent and -independent Stat5 activation in culture (PMID: 36529225, PMID: 24142793).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 H608N

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Transcript NM_004972.4
gDNA chr9:g.5073743C>A
cDNA c.1822C>A
Protein p.H608N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5073743C>A c.1822C>A p.H608N RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5073743C>A c.1822C>A p.H608N RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5073743C>A c.1822C>A p.H608N RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5073743C>A c.1822C>A p.H608N RefSeq GRCh38/hg38

Filtering

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  • 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")

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  • 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References