Gene Variant Detail

Gene JAK2
Variant R975G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 R975G lies within the JH1 protein kinase domain 2 of the Jak2 protein (UniProt.org). R975G is predicted to confer a gain of function to the Jak2 protein, as demonstrated by 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).
Associated Drug Resistance Y

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Transcript NM_004972
gDNA chr9:g.5090775A>G
cDNA c.2923A>G
Protein p.R975G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090775A>G c.2923A>G p.R975G RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090775A>G c.2923A>G p.R975G 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
ETV6-JAK2 JAK2 R975G
JAK2 R975G gain of function - predicted JAK Inhibitor (Pan) JAK2 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6-JAK2 JAK2 R975G hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the R975G mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261