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Gene RB1
Variant E748*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 E748* results in a premature truncation of the Rb1 protein at amino acid 748 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E748* is predicted to lead to a loss of Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 E748*

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Transcript NM_000321.3
gDNA chr13:g.48465028G>T
cDNA c.2242G>T
Protein p.E748*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.3 chr13:g.48465028G>T c.2242G>T p.E748* RefSeq GRCh38/hg38
NM_000321 chr13:g.48465028G>T c.2242G>T p.E748* RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48465028G>T c.2242G>T p.E748* RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48465028G>T c.2242G>T p.E748* RefSeq GRCh38/hg38

Filtering

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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

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