Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 |
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_004972 | 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_001322196.2 | 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_001322196.1 | 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_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_001322194.1 | 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 |
NM_001322195.1 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). | detail... |
JAK2 mutant | childhood B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
JAK2 mutant | essential thrombocythemia | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). | detail... |
JAK2 mutant | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |