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Gene | JAK2 |
Variant | D894G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 D894G lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). D894G has been identified in sequencing studies (PMID: 27561722, PMID: 30304655, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 D894G |
Transcript | NM_004972.4 |
gDNA | chr9:g.5089783A>G |
cDNA | c.2681A>G |
Protein | p.D894G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |