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JAK2 R683G - Gene Variant Detail

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Gene JAK2
Variant R683G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R683G lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). R683G results in constitutive activation of the Jak2 protein as demonstrated by increased transcription of Stat5 (PMID: 26216197, PMID: 23748007), and results in cytokine-independent transformation in cell culture (PMID: 26216197, PMID: 18805579).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R683G

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Transcript NM_004972.4
gDNA chr9:g.5078360A>G
cDNA c.2047A>G
Protein p.R683G
Source Database RefSeq
Genome Build GRCh38/hg38

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