Gene Variant Detail

Gene JAK2
Variant S591L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 S591L lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). S591L demonstrates autophosphorylation and activation of Stat5, Erk, and Akt to similar levels of wild-type Jak2, but also has increased kinase activity in an in vitro kinase assay and is transforming in cell culture (PMID: 19638629), therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5072622C>T
cDNA c.1772C>T
Protein p.S591L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38
NM_004972 chr9:g.5072622C>T c.1772C>T p.S591L 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 Protein Effect Treatment Approaches
JAK2 S591L unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References