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Gene | RB1 |
Variant | R798W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RB1 R798W lies within domain C of the Rb1 protein (UniProt.org). R798W has been identified in the scientific literature (PMID: 9194486, PMID: 31411343, PMID: 33807452), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RB1 mutant RB1 R798W |
Transcript | NM_000321.3 |
gDNA | chr13:g.48465271C>T |
cDNA | c.2392C>T |
Protein | p.R798W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000321.2 | chr13:g.48465271C>T | c.2392C>T | p.R798W | RefSeq | GRCh38/hg38 |
NM_001407165.1 | chr13:g.48465271C>T | c.2392C>T | p.R798W | RefSeq | GRCh38/hg38 |
NM_000321.3 | chr13:g.48465271C>T | c.2392C>T | p.R798W | RefSeq | GRCh38/hg38 |
NM_000321 | chr13:g.48465271C>T | c.2392C>T | p.R798W | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RB1 R798W | unknown |