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| Gene | RB1 |
| Variant | T738_R775del |
| Impact List | deletion |
| Protein Effect | unknown |
| Gene Variant Descriptions | RB1 T738_R775del results in the deletion of 38 amino acids in domain B of the Rb1 protein from amino acids 738 to 775 (UniProt.org). T738_R775del has been identified in the scientific literature (PMID: 29236940), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
RB1 mutant RB1 T738_R775del |
| Transcript | NM_000321.3 |
| gDNA | chr13:g.48464998_48465111del114 |
| cDNA | c.2212_2325del114 |
| Protein | p.T738_R775del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000321.2 | chr13:g.48464998_48465111del114 | c.2212_2325del114 | p.T738_R775del | RefSeq | GRCh38/hg38 |
| NM_001407165.1 | chr13:g.48464998_48465111del114 | c.2212_2325del114 | p.T738_R775del | RefSeq | GRCh38/hg38 |
| NM_000321 | chr13:g.48464998_48465111del114 | c.2212_2325del114 | p.T738_R775del | RefSeq | GRCh38/hg38 |
| NM_000321.3 | chr13:g.48464998_48465111del114 | c.2212_2325del114 | p.T738_R775del | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|