Gene Variant Detail

Gene JAK2
Variant E864K
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 E864K lies within the JH1 protein kinase domain 2 of the Jak2 protein (UniProt.org). E864K is predicted to confer a gain of function to the Jak2 protein, as demonstrated by increased Jak2 and Stat5 phosphorylation and also prevents apoptosis in the presence of a Jak inhibitor (PMID: 22916261) and therefore, has been described as a secondary drug resistance mutation in the context of other Jak2 activating mutations (PMID: 22916261, PMID: 22271575).
Associated Drug Resistance Y

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.

Transcript NM_004972
gDNA chr9:g.5089692G>A
cDNA c.2590G>A
Protein p.E864K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322195 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_004972 chr9:g.5089692G>A c.2590G>A p.E864K RefSeq GRCh38/hg38
NM_001322196 chr9:g.5089692G>A c.2590G>A p.E864K 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
ETV6 - JAK2 JAK2 E864K hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the E864K mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
JAK2 V617F JAK2 E864K hematologic cancer resistant NVP-BVB808 Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 E864K double mutation demonstrated resistance to NVP-BVB808 in culture (PMID: 22271575). 22271575
JAK2 V617F JAK2 E864K hematologic cancer resistant NVP-BSK805 Preclinical - Cell culture Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 E864K double mutation demonstrated resistance to NVP-BSK805 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 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