JAK2 S523L - Gene Variant Detail

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Gene JAK2
Variant S523L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 S523L lies within a linker region of the Jak2 protein (PMID: 29685781). S523L results in impaired phosphorylation of Jak2 at S523, a site that negatively regulates Jak2 activity, and demonstrates increased cytokine-independent phosphorylation of Jak2 and Stat5 and cytokine-independent growth in cell culture (PMID: 32956452).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 S523L

JAK2 mutant JAK2 exon12 JAK2 S523L

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Transcript NM_004972.4
gDNA chr9:g.5069979C>T
cDNA c.1568C>T
Protein p.S523L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.3 chr9:g.5069979C>T c.1568C>T p.S523L RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5069979C>T c.1568C>T p.S523L RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5069979C>T c.1568C>T p.S523L RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5069979C>T c.1568C>T p.S523L RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5069979C>T c.1568C>T p.S523L RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5069979C>T c.1568C>T p.S523L RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5069979C>T c.1568C>T p.S523L RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5069979C>T c.1568C>T p.S523L 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References