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Gene | JAK2 |
Variant | Y1045W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 Y1045W lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). Y1045W has been demonstrated to confer Jak2 inhibitor resistance in combination with V617F and Y931C in culture (PMID: 26419724), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK2 mutant JAK2 Y1045W |
Transcript | NM_004972.4 |
gDNA | chr9:g.5123078_5123079delATinsGG |
cDNA | c.3134_3135delATinsGG |
Protein | p.Y1045W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |