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JAK2 Y931F - Gene Variant Detail

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Gene JAK2
Variant Y931F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 Y931F lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). Y931F results in Epo-induced activation of Jak2 and colony formation similar to wild-type Jak2 in culture (PMID: 18160720), but is transforming in culture (PMID: 26419724), and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 Y931F

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Transcript NM_004972.4
gDNA chr9:g.5090476A>T
cDNA c.2792A>T
Protein p.Y931F
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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