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| Gene | JAK2 |
| Variant | L902Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK2 L902Q lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). L902Q does not result in cytokine-independent growth and is associated with resistance to Jak2 inhibitors in the context of JAK2 V617F in culture (PMID: 39091915), but has not been fully biochemically characterized and therefore, its effect on Jak2 protein function is unknown. |
| Associated Drug Resistance | Y |
| Category Variants Paths |
JAK2 mutant JAK2 L902Q |
| Transcript | NM_004972.4 |
| gDNA | chr9:g.5089807T>A |
| cDNA | c.2705T>A |
| Protein | p.L902Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004972.4 | chr9:g.5089807T>A | c.2705T>A | p.L902Q | RefSeq | GRCh38/hg38 |
| NM_001322194.2 | chr9:g.5089807T>A | c.2705T>A | p.L902Q | RefSeq | GRCh38/hg38 |
| NM_001322195.2 | chr9:g.5089807T>A | c.2705T>A | p.L902Q | RefSeq | GRCh38/hg38 |
| NM_001322196.2 | chr9:g.5089807T>A | c.2705T>A | p.L902Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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