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JAK2 D873N - Gene Variant Detail

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Gene JAK2
Variant D873N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 D873N lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). D873N results in increased Jak2 phosphorylation in cell culture (PMID: 24918548), and the corresponding mouse variant (D873N) results in increased Jak2 and Stat5 phosphorylation, and transformation of cells in culture (PMID: 19470474).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 D873N

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Transcript NM_004972.4
gDNA chr9:g.5089719G>A
cDNA c.2617G>A
Protein p.D873N
Source Database RefSeq
Genome Build GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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