Gene Variant Detail

Gene JAK2
Variant R938Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R938Q lies within the JH1 protein kinase domain 2 of the Jak2 protein (UniProt.org). R938Q confers a gain of function to the Jak2 protein, as demonstrated by constitutive Stat5 signaling (PMID: 29025600), transformation of cultured cells (PMID: 24398328), and also displays resistance to Jak1/2 ATP-competitive inhibitors (PMID: 29025600).
Associated Drug Resistance Y

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Transcript NM_004972
gDNA chr9:g.5090497G>A
cDNA c.2813G>A
Protein p.R938Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5090497G>A c.2813G>A p.R938Q RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090497G>A c.2813G>A p.R938Q RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090497G>A c.2813G>A p.R938Q RefSeq GRCh38/hg38
NM_001322204 chr9:g.5126414_5126415delAGinsCA c.2812_2813delAGinsCA p.R938Q RefSeq GRCh38/hg38
NM_004972 chr9:g.5090497G>A c.2813G>A p.R938Q 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 R938Q B-cell childhood acute lymphoblastic leukemia resistant Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, bone marrow mononuclear cells from a pediatric B-cell acute lymphoblastic leukemia with an acquired Jak2 R938Q mutation were resistant to Jakafi (ruxolitinib) (PMID: 29025600). 29025600