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JAK2 R1063H - Gene Variant Detail

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Gene JAK2
Variant R1063H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R1063H lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). R1063H results in increased Epo-induced growth, Stat5 phosphorylation and transcriptional activity, and Epo-dependent and independent hematopoietic colony formation in-vitro as compared to wild-type Jak2 in culture (PMID: 27389715).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R1063H

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Transcript NM_004972.4
gDNA chr9:g.5126343G>A
cDNA c.3188G>A
Protein p.R1063H
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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