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Gene RB1
Variant L523fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 L523fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 523 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), L523fs is predicted to lead to a loss Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 L523fs

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Transcript NM_000321.3
gDNA chr13:g.(48381314_48381315)
cDNA c.(1567_1566)
Protein p.L523fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321 chr13:g.(48381314_48381315) c.(1567_1566) p.L523fs RefSeq GRCh38/hg38
NM_000321.3 chr13:g.(48381314_48381315) c.(1567_1566) p.L523fs RefSeq GRCh38/hg38
NM_000321.2 chr13:g.(48381314_48381315) c.(1567_1566) p.L523fs RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.(48381314_48381315) c.(1567_1566) p.L523fs RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.(48381314_48381315) c.(1567_1566) p.L523fs RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References