Gene Variant Detail

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Gene RB1
Variant L607I
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 L607I lies within the spacer region of the Rb1 protein (UniProt.org). L607I has not been biochemically characterized, but is predicted to confer a loss of function to the Rb1 protein as demonstrated by the inability to induce apoptosis in cultured cells (PMID: 20594292).
Associated Drug Resistance

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Transcript NM_000321
gDNA chr13:g.48456208C>A
cDNA c.1819C>A
Protein p.L607I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011535171 chr13:g.48459807C>A c.1819C>A p.L607I RefSeq GRCh38/hg38
NM_000321 chr13:g.48456208C>A c.1819C>A p.L607I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 L607I loss of function - predicted HDAC Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References