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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 |
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_001322196 | 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_001322195.1 | 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_001322194 | 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_001322194.1 | 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_001322195 | 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_001322195.2 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 V617F JAK2 E987D | Advanced Solid Tumor | resistant | Ruxolitinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing JAK2 V617F and E987D demonstrated resistance to Jakafi (Ruxolitinib) treatment in culture (PMID: 26419724). | 26419724 |