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| Gene | JAK2 |
| Variant | E985K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK2 E985K lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). E985K has been demonstrated to confer resistance to Jak inhibitors in the context of complex JAK2 mutations (PMID: 21926964), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
JAK2 mutant JAK2 E985K |
| Transcript | NM_004972.4 |
| gDNA | chr9:g.5090805G>A |
| cDNA | c.2953G>A |
| Protein | p.E985K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001322194 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_004972 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_001322195.1 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_001322196.1 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_004972.4 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_001322195.2 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_001322194.1 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_004972.3 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_001322194.2 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_001322196.2 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_001322195 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| NM_001322196 | chr9:g.5090805G>A | c.2953G>A | p.E985K | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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