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Gene RB1
Variant L550I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RB1 L550I lies within domain A of the Rb1 protein (UniProt.org). L550I has been identified in sequencing studies (PMID: 27294619, PMID: 27147599), 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 L550I

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Transcript NM_000321.3
gDNA chr13:g.48381396T>A
cDNA c.1648T>A
Protein p.L550I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321 chr13:g.48381396T>A c.1648T>A p.L550I RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48381396T>A c.1648T>A p.L550I RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48381396T>A c.1648T>A p.L550I RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.48381396T>A c.1648T>A p.L550I RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48381396T>A c.1648T>A p.L550I 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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