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Gene JAK2
Variant F556W
Impact List missense
Protein Effect no effect
Gene Variant Descriptions JAK2 F556W lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). F556W results in Jak2 enzymatic activity and phosphorylation, Stat5 binding and activation, and protein conformation similar to wild-type Jak2, and is not transforming in cell culture (PMID: 29842959).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 F556W

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Transcript NM_004972.4
gDNA chr9:g.5072517_5072518delTTinsGG
cDNA c.1667_1668delTTinsGG
Protein p.F556W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.4 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_004972 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072517_5072518delTTinsGG c.1667_1668delTTinsGG p.F556W 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References