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Gene | JAK2 |
Variant | E543_D544del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 E543_D544del results in the deletion of two amino acids of the Jak2 protein from amino acids 543 to 544 (UniProt.org). E543_D544del has been identified in the scientific literature (PMID: 27410038, PMID: 26361084, PMID: 17984312), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 exon12 JAK2 E543_D544del |
Transcript | NM_004972.4 |
gDNA | chr9:g.5070038_5070043delGAAGAT |
cDNA | c.1627_1632delGAAGAT |
Protein | p.E543_D544delED |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322196.1 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544del | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544del | RefSeq | GRCh38/hg38 |
NM_001322204.2 | chr9:g.5078387_5078392delCCTCCT | c.1627_1632delCCTCCT | p.P543_P544delPP | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544del | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544del | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544del | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544del | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544del | RefSeq | GRCh38/hg38 |
NM_001322199.2 | chr9:g.5090526_5090531delATAGAT | c.1627_1632delATAGAT | p.I543_D544delID | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544delED | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544del | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544delED | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544delED | RefSeq | GRCh38/hg38 |
NM_001322198.2 | chr9:g.5090526_5090531delATAGAT | c.1627_1632delATAGAT | p.I543_D544delID | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5070038_5070043delGAAGAT | c.1627_1632delGAAGAT | p.E543_D544delED | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 exon12 | polycythemia vera | not applicable | N/A | Guideline | Diagnostic | JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (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 | 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 | 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... |
JAK2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). | detail... |