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JAK2 F537_K539delinsL - Gene Variant Detail

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Gene JAK2
Variant F537_K539delinsL
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions JAK2 F537_K539delinsL results in a deletion of three amino acids of the Jak2 protein from amino acids 537 to 539, combined with the insertion of a leucine (L) at the same site (UniProt.org). F537_K539delinsL confers a gain of function to the Jak2 protein as demonstrated by increased proliferation, Jak2 phosphorylation, and downstream Stat5 phosphorylation in cell culture (PMID: 17267906).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 F537_K539delinsL

JAK2 mutant JAK2 exon12 JAK2 F537_K539delinsL

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Transcript NM_004972.4
gDNA chr9:g.5070022_5070027delTCACAA
cDNA c.1611_1616delTCACAA
Protein p.F537_K539delinsL
Source Database RefSeq
Genome Build GRCh38/hg38

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  • 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

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