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Gene | RB1 |
Variant | R621S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RB1 R621S lies within the spacer region of the Rb1 protein (UniProt.org). R621S has been identified in the scientific literature (PMID: 24791139, PMID: 32020225, PMID: 33854152), 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 R621S |
Transcript | NM_000321.3 |
gDNA | chr13:g.48456250C>A |
cDNA | c.1861C>A |
Protein | p.R621S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000321.2 | chr13:g.48456250C>A | c.1861C>A | p.R621S | RefSeq | GRCh38/hg38 |
NM_000321 | chr13:g.48456250C>A | c.1861C>A | p.R621S | RefSeq | GRCh38/hg38 |
NM_000321.3 | chr13:g.48456250C>A | c.1861C>A | p.R621S | RefSeq | GRCh38/hg38 |
NM_001407165.1 | chr13:g.48456250C>A | c.1861C>A | p.R621S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RB1 R621S | unknown |