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| Gene | JAK2 |
| Variant | D620E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK2 D620E lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). D620E has been identified in the scientific literature (PMID: 16871281, PMID: 17008888), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK2 mutant JAK2 D620E |
| Transcript | NM_004972.4 |
| gDNA | chr9:g.5073781C>G |
| cDNA | c.1860C>G |
| Protein | p.D620E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |