Gene Variant Detail

Gene JAK2
Variant R683G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R683G lies within the protein kinase 1 (JH2, pseudokinase) 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 is transforming in cell culture, independent of cytokines (PMID: 26216197, PMID: 18805579).
Associated Drug Resistance

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Transcript NM_004972
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_001322196 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_004972 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 R683G JAK2 E864K cancer resistant NVP-BVB808 Preclinical Actionable In a preclinical study, cells expressing the JAK2 R683G/E864K double mutation demonstrated resistance to NVP-BVB808 in culture (PMID: 22271575). 22271575
JAK2 R683G JAK2 E864K cancer resistant NVP-BSK805 Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 R683G/E864K double mutation demonstrated resistance to NVP-BSK805 in culture (PMID: 22271575). 22271575
JAK2 R683G JAK2 G935R cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, cells expressing the JAK2 R683G/G935R double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 22271575). 22271575
JAK2 R683G JAK2 G935R cancer resistant NVP-BSK805 Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 R683G/G935R double mutation demonstrated resistance to NVP-BSK805 in culture (PMID: 22271575). 22271575
JAK2 R683G JAK2 G935R cancer resistant NVP-BVB808 Preclinical Actionable In a preclinical study, cells expressing the JAK2 R683G/G935R double mutation demonstrated resistance to NVP-BVB808 in culture (PMID: 22271575). 22271575