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Gene | RB1 |
Variant | F755I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RB1 F755I lies within domain B of the Rb1 protein (UniProt.org). F755I has been identified in the scientific literature (PMID: 22084214), 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 F755I |
Transcript | NM_000321.3 |
gDNA | chr13:g.48465049T>A |
cDNA | c.2263T>A |
Protein | p.F755I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407165.1 | chr13:g.48465049T>A | c.2263T>A | p.F755I | RefSeq | GRCh38/hg38 |
NM_000321.2 | chr13:g.48465049T>A | c.2263T>A | p.F755I | RefSeq | GRCh38/hg38 |
NM_000321 | chr13:g.48465049T>A | c.2263T>A | p.F755I | RefSeq | GRCh38/hg38 |
NM_000321.3 | chr13:g.48465049T>A | c.2263T>A | p.F755I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RB1 F755I | unknown |