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Gene | JAK2 |
Variant | H608K |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | JAK2 H608K lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). H608K demonstrates enzymatic activity and ATP and Stat5 affinity similar to wild-type Jak2 in in vitro assays, and leads to cytokine-dependent and -independent Stat5 activation similar to wild-type in culture (PMID: 36529225), and therefore, is predicted to have no effect on Jak2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 H608K |
Transcript | NM_004972.4 |
gDNA | chr9:g.5073743_5073745delCATinsAAG |
cDNA | c.1822_1824delCATinsAAG |
Protein | p.H608K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.5073743_5073745delCATinsAAG | c.1822_1824delCATinsAAG | p.H608K | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5073743_5073745delCATinsAAG | c.1822_1824delCATinsAAG | p.H608K | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5073743_5073745delCATinsAAG | c.1822_1824delCATinsAAG | p.H608K | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5073743_5073745delCATinsAAG | c.1822_1824delCATinsAAG | p.H608K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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