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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 assay and is transforming in cell culture (PMID: 19638629), and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 S591L

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Transcript NM_004972.4
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_001322195.1 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_001322196 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38
NM_004972.3 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
NM_001322196.2 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_001322194.1 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072622C>T c.1772C>T p.S591L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References