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Gene JAK2
Variant E987D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 E987D lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). E987D has been demonstrated to confer resistance to Jak inhibitors in the context of complex JAK2 mutations (PMID: 26419724), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 E987D

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Transcript NM_004972.4
gDNA chr9:g.5090813G>C
cDNA c.2961G>C
Protein p.E987D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_004972 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090813G>C c.2961G>C p.E987D RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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...
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...