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Gene | RB1 |
Variant | P515T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RB1 P515T lies within domain A of the Rb1 protein (UniProt.org). P515T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RB1 mutant RB1 P515T |
Transcript | NM_000321.3 |
gDNA | chr13:g.48381291C>A |
cDNA | c.1543C>A |
Protein | p.P515T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000321.2 | chr13:g.48381291C>A | c.1543C>A | p.P515T | RefSeq | GRCh38/hg38 |
NM_000321.3 | chr13:g.48381291C>A | c.1543C>A | p.P515T | RefSeq | GRCh38/hg38 |
NM_001407165.1 | chr13:g.48381291C>A | c.1543C>A | p.P515T | RefSeq | GRCh38/hg38 |
NM_001407166.1 | chr13:g.48381291C>A | c.1543C>A | p.P515T | RefSeq | GRCh38/hg38 |
NM_000321 | chr13:g.48381291C>A | c.1543C>A | p.P515T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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