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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

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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_001322196.2 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED 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_004972.4 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 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_001322196.1 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_001322198.2 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_001322195 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_004972.3 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38

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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 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 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 myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). detail...