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| Gene | JAK3 |
| Variant | R953* |
| Impact List | nonsense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK3 R953* results in a premature truncation of the Jak3 protein at amino acid 953 of 1124 (UniProt.org). R953* has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK3 mutant JAK3 R953* |
| Transcript | NM_000215.4 |
| gDNA | chr19:g.17831349G>A |
| cDNA | c.2857C>T |
| Protein | p.R953* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000215.4 | chr19:g.17831349G>A | c.2857C>T | p.R953* | RefSeq | GRCh38/hg38 |
| NM_000215 | chr19:g.17831349G>A | c.2857C>T | p.R953* | RefSeq | GRCh38/hg38 |
| XM_047438786.1 | chr19:g.17831349G>A | c.2857C>T | p.R953* | RefSeq | GRCh38/hg38 |
| NM_000215.3 | chr19:g.17831349G>A | c.2857C>T | p.R953* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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