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| Gene | JAK3 |
| Variant | A593T |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | JAK3 A593T lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). A593T has not been biochemically characterized, but is not transforming in cell culture (PMID: 29046866), and therefore, is predicted to have no effect on Jak3 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK3 mutant JAK3 A593T |
| Transcript | NM_000215.4 |
| gDNA | chr19:g.17837138C>T |
| cDNA | c.1777G>A |
| Protein | p.A593T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000215 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
| NM_000215.3 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
| NM_000215.4 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
| XM_047438786.1 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
| XM_011527991.3 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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