RB1 N849Rfs*23
Gene Variant Detail

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Gene RB1
Variant N849Rfs*23
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions RB1 N849Rfs*23 indicates a shift in the reading frame starting at amino acid 849 and terminating 23 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). N849Rfs*23 has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026).
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 N849fs RB1 N849Rfs*23

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Transcript NM_000321.3
gDNA chr13:g.48476726_48476729delATCA
cDNA c.2546_2549delATCA
Protein p.N849Rfs*23
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.2 chr13:g.48476726_48476729delATCA c.2546_2549delATCA p.N849Rfs*23 RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48476726_48476729delATCA c.2546_2549delATCA p.N849Rfs*23 RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48476726_48476729delATCA c.2546_2549delATCA p.N849Rfs*23 RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References