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Gene JAK2
Variant F556P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 F556P lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). F556P confers a gain of function to the Jak2 protein as demonstrated by increased enzymatic activity and Stat5 binding, cytokine-independent Stat5 activation, and transformation of cultured cells (PMID: 29842959).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 F556P

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Transcript NM_004972.4
gDNA chr9:g.5072516_5072517delTTinsCC
cDNA c.1666_1667delTTinsCC
Protein p.F556P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_004972 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072516_5072517delTTinsCC c.1666_1667delTTinsCC p.F556P RefSeq 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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  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries