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JAK2 R975G - Gene Variant Detail

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Gene JAK2
Variant R975G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 R975G lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). R975G results in increased Jak2, Stat5, Akt, and Erk phosphorylation, and has also been described as a secondary drug resistance mutation in the context of ETV6-JAK2 (PMID: 22916261), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R975G

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Transcript NM_004972.4
gDNA chr9:g.5090775A>G
cDNA c.2923A>G
Protein p.R975G
Source Database RefSeq
Genome Build GRCh38/hg38

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