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| Gene | RB1 |
| Variant | M695V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RB1 M695V lies within domain B of the Rb1 protein (UniProt.org). M695V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
RB1 mutant RB1 M695V |
| Transcript | NM_000321.3 |
| gDNA | chr13:g.48459810A>G |
| cDNA | c.2083A>G |
| Protein | p.M695V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000321.2 | chr13:g.48459810A>G | c.2083A>G | p.M695V | RefSeq | GRCh38/hg38 |
| NM_000321.3 | chr13:g.48459810A>G | c.2083A>G | p.M695V | RefSeq | GRCh38/hg38 |
| NM_000321 | chr13:g.48459810A>G | c.2083A>G | p.M695V | RefSeq | GRCh38/hg38 |
| NM_001407165.1 | chr13:g.48459810A>G | c.2083A>G | p.M695V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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