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
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.1 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_004972 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078360A>G c.2047A>G p.R683G RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 R683G Advanced Solid Tumor sensitive CHZ868 Preclinical - Cell culture Actionable In a preclinical study, CHZ868 inhibited viability of a cell line expressing JAK2 R683G in culture (PMID: 37290440). 37290440