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Gene RB1
Variant E40K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RB1 E40K does not lie within any known functional domains of the Rb1 protein (UniProt.org). E40K has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 E40K

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Transcript NM_000321.3
gDNA chr13:g.48304030G>A
cDNA c.118G>A
Protein p.E40K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407165.1 chr13:g.48304030G>A c.118G>A p.E40K RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.48304030G>A c.118G>A p.E40K RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48304030G>A c.118G>A p.E40K RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48304030G>A c.118G>A p.E40K RefSeq GRCh38/hg38
NM_001407167.1 chr13:g.48304030G>A c.118G>A p.E40K 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 Protein Effect Treatment Approaches
RB1 E40K unknown