RB1 R552*
Gene Variant Detail

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Gene RB1
Variant R552*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions RB1 R552* results in a premature truncation of the Rb1 protein at amino acid 552 of 928 (UniProt.org). R552* results in decreased Rb1 mRNA and protein expression, decreased nuclear localization, increased proliferation, colony formation, and migration in culture (PMID: 39845333) and due to the loss of multiple functional domains (UniProt.org), leads to a loss of Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 R552*

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Transcript NM_000321.3
gDNA chr13:g.48381402C>T
cDNA c.1654C>T
Protein p.R552*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321 chr13:g.48381402C>T c.1654C>T p.R552* RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.48381402C>T c.1654C>T p.R552* RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48381402C>T c.1654C>T p.R552* RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48381402C>T c.1654C>T p.R552* RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48381402C>T c.1654C>T p.R552* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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