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Gene JAK2
Variant H608Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 H608Y lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). H608Y 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).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 H608Y

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Transcript NM_004972.4
gDNA chr9:g.5073743C>T
cDNA c.1822C>T
Protein p.H608Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_004972 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_001322194 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_001322196 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38
NM_001322195 chr9:g.5073743C>T c.1822C>T p.H608Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References