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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 |
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_001322196.2 | chr9:g.5073743C>A | c.1822C>A | p.H608N | RefSeq | GRCh38/hg38 |
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_001322195.2 | chr9:g.5073743C>A | c.1822C>A | p.H608N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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