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Gene JAK2
Variant H608A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 H608A lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). H608A 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 H608A

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Transcript NM_004972.4
gDNA chr9:g.5073743_5073744delCAinsGC
cDNA c.1822_1823delCAinsGC
Protein p.H608A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5073743_5073744delCAinsGC c.1822_1823delCAinsGC p.H608A RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5073743_5073744delCAinsGC c.1822_1823delCAinsGC p.H608A RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5073743_5073744delCAinsGC c.1822_1823delCAinsGC p.H608A RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5073743_5073744delCAinsGC c.1822_1823delCAinsGC p.H608A 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
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Molecular Profile Protein Effect Treatment Approaches
JAK2 H608A gain of function