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JAK2 L393V - Gene Variant Detail

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Gene JAK2
Variant L393V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 L393V lies within a linker region of the Jak2 protein (PMID: 29685781). L393V confers a gain of function to the Jak2 protein, as demonstrated by increased transcriptional activity of Stat1, 3, and 5, and increased ligand-dependent cell viability as compared to wild-type Jak2 in culture (PMID: 27647865).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 L393V

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Transcript NM_004972.4
gDNA chr9:g.5065003C>G
cDNA c.1177C>G
Protein p.L393V
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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