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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 |
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_001322195.1 | 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_004972.3 | 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 | 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_004972.4 | 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_004972 | 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_001322196 | chr9:g.5072516_5072517delTTinsGA | c.1666_1667delTTinsGA | p.F556D | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5072516_5072517delTTinsGA | c.1666_1667delTTinsGA | p.F556D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 F556D | gain of function | JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor JAK2 Inhibitor - ATP competitive |