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| Gene | RB1 |
| Variant | R698W |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RB1 R698W lies within domain B of the Rb1 protein (UniProt.org). R698W results in decreased apoptotic function and protein stability (PMID: 20594292), and therefore, is predicted to lead to a loss of Rb1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RB1 mutant RB1 inact mut RB1 R698W |
| Transcript | NM_000321.3 |
| gDNA | chr13:g.48459819A>T |
| cDNA | c.2092A>T |
| Protein | p.R698W |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000321.3 | chr13:g.48459819A>T | c.2092A>T | p.R698W | RefSeq | GRCh38/hg38 |
| NM_000321 | chr13:g.48459819A>T | c.2092A>T | p.R698W | RefSeq | GRCh38/hg38 |
| NM_001407165.1 | chr13:g.48459819A>T | c.2092A>T | p.R698W | RefSeq | GRCh38/hg38 |
| NM_000321.2 | chr13:g.48459819A>T | c.2092A>T | p.R698W | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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