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| Gene | JAK3 |
| Variant | C1077F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK3 C1077F lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). C1077F has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK3 mutant JAK3 C1077F |
| Transcript | NM_000215.4 |
| gDNA | chr19:g.17826888C>A |
| cDNA | c.3230G>T |
| Protein | p.C1077F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000215.4 | chr19:g.17826888C>A | c.3230G>T | p.C1077F | RefSeq | GRCh38/hg38 |
| XM_047438786.1 | chr19:g.17826888C>A | c.3230G>T | p.C1077F | RefSeq | GRCh38/hg38 |
| NM_000215.3 | chr19:g.17826888C>A | c.3230G>T | p.C1077F | RefSeq | GRCh38/hg38 |
| NM_000215 | chr19:g.17826888C>A | c.3230G>T | p.C1077F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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