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| Gene | JAK2 |
| Variant | Y918F |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | JAK2 Y918F lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). Y918F results in Epo-induced activation of Jak2 and cytokine-induced colony formation similar to wild-type Jak2 in culture (PMID: 18160720). |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK2 mutant JAK2 Y918F |
| Transcript | NM_004972.4 |
| gDNA | chr9:g.5089855A>T |
| cDNA | c.2753A>T |
| Protein | p.Y918F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001322194 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_001322195 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_001322196.1 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_004972 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_004972.3 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_001322195.1 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_004972.4 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_001322194.2 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_001322196 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_001322195.2 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_001322196.2 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| NM_001322194.1 | chr9:g.5089855A>T | c.2753A>T | p.Y918F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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