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Gene | JAK2 |
Variant | D319G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 D319G lies within the FERM domain of the Jak2 protein (UniProt.org). D319G has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 D319G |
Transcript | NM_004972.4 |
gDNA | chr9:g.5055688A>G |
cDNA | c.956A>G |
Protein | p.D319G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |