Gene Variant Detail

Gene JAK2
Variant R867Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R867Q lies within the JH1 protein kinase domain 2 of the Jak2 protein (UniProt.org). R867Q results in constitutive activation of STAT3/5, AKT and ERK signaling, and increased proliferation in thrombopoietin receptor-expressing cells in culture (PMID: 24398328).
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5089702G>A
cDNA c.2600G>A
Protein p.R867Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972 chr9:g.5089702G>A c.2600G>A p.R867Q RefSeq GRCh38/hg38
NM_001322194 chr9:g.5089702G>A c.2600G>A p.R867Q RefSeq GRCh38/hg38
NM_001322195 chr9:g.5089702G>A c.2600G>A p.R867Q RefSeq GRCh38/hg38
NM_001322196 chr9:g.5089702G>A c.2600G>A p.R867Q 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
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 R867Q hematologic cancer decreased response AZ960 Preclinical Actionable In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to AZ960 in culture (PMID: 24398328). 24398328
JAK2 R867Q hematologic cancer decreased response Luminespib Preclinical Actionable In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to Luminespib (AUY922) in culture (PMID: 24398328). 24398328
JAK2 R867Q hematologic cancer decreased response Momelotinib Preclinical Actionable In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to Momelotinib (CYT387) in culture (PMID: 24398328). 24398328
JAK2 R867Q hematologic cancer decreased response SAR302503 Preclinical - Cell culture Actionable In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to Fedratinib (SAR302503) in culture (PMID: 24398328). 24398328
JAK2 R867Q hematologic cancer decreased response Ruxolitinib Preclinical Actionable In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to Jakafi (ruxolitinib) in culture (PMID: 24398328). 24398328