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Gene JAK2
Variant F556D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 F556D lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). F556D confers a gain of function to the Jak2 protein as demonstrated by hypersensitivity to cytokine stimulation, cytokine-independent activation of Jak2 and Stat5 in culture, increased enzymatic activity, constitutively active protein conformation, and transformation of cultured cells (PMID: 29842959).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 F556D

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Transcript NM_004972.4
gDNA chr9:g.5072516_5072517delTTinsGA
cDNA c.1666_1667delTTinsGA
Protein p.F556D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_004972 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5072516_5072517delTTinsGA c.1666_1667delTTinsGA p.F556D RefSeq GRCh38/hg38

Filtering

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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