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Gene JAK2
Variant Y1007F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions JAK2 Y1007F lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). Y1007F demonstrates increased protein stability, and loss of kinase activity, Epo-induced activation of Jak2 and reduced cytokine-induced colony formation compared to wild-type Jak2 in culture (PMID: 17024180, PMID: 18160720).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 Y1007F

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Transcript NM_004972.4
gDNA chr9:g.5090872A>T
cDNA c.3020A>T
Protein p.Y1007F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_004972 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090872A>T c.3020A>T p.Y1007F RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090872A>T c.3020A>T p.Y1007F 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
JAK2 Y1007F loss of function