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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

Filtering

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  • 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

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