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Gene | JAK2 |
Variant | F560S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 F560S lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). F560S 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 F560S |
Transcript | NM_004972.4 |
gDNA | chr9:g.5072529T>C |
cDNA | c.1679T>C |
Protein | p.F560S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |