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 results in nuclear localization similar to wild-type Rb1 but decreased protein stability and reduced ability to induce apoptosis in cultured cells (PMID: 20594292), and therefore, is predicted to lead to a loss of Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 L607I

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Transcript NM_000321.3
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
NM_000321 chr13:g.48456208C>A c.1819C>A p.L607I RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48456208C>A c.1819C>A p.L607I RefSeq GRCh38/hg38
XM_011535171 chr13:g.48459807C>A c.1819C>A p.L607I RefSeq GRCh38/hg38
XM_011535171.2 chr13:g.48459807C>A c.1819C>A p.L607I RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48456208C>A c.1819C>A p.L607I RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48456208C>A c.1819C>A p.L607I 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

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  • 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