Gene Variant Detail

Gene JAK2
Variant F694L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 F694L lies within the protein kinase 1 (JH2, pseudokinase) domain of the Jak2 protein (UniProt.org). F694L confers a gain of function to the Jak2 protein, as demonstrated by increased kinase activity, activation of Stat5, Erk, and Akt, and is transforming in cell culture (PMID: 19638629).
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5078393T>C
cDNA c.2080T>C
Protein p.F694L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5078393T>C c.2080T>C p.F694L RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078393T>C c.2080T>C p.F694L RefSeq GRCh38/hg38
NM_004972 chr9:g.5078393T>C c.2080T>C p.F694L RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078393T>C c.2080T>C p.F694L 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