Gene Variant Detail

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Gene RB1
Variant K240Sfs*22
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 K240Sfs*22 indicates a shift in the reading frame starting at amino acid 240 and terminating 22 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K240Sfs*22 is predicted to lead to a loss of Rb1 function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 K240Sfs*22

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Transcript NM_000321.3
gDNA chr13:g.(48360127_48362882)
cDNA c.(718_786)
Protein p.K240Sfs*22
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.3 chr13:g.(48360127_48362882) c.(718_786) p.K240Sfs*22 RefSeq GRCh38/hg38
XM_011535171.2 chr13:g.(48367533_48367601) c.(718_786) p.K240Sfs*22 RefSeq GRCh38/hg38
NM_000321 chr13:g.(48360127_48362882) c.(718_786) p.K240Sfs*22 RefSeq GRCh38/hg38
XM_011535171 chr13:g.(48367533_48367601) c.(718_786) p.K240Sfs*22 RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.(48360127_48362882) c.(718_786) p.K240Sfs*22 RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.(48360127_48362882) c.(718_786) p.K240Sfs*22 RefSeq GRCh38/hg38
NM_000321.2 chr13:g.(48360127_48362882) c.(718_786) p.K240Sfs*22 RefSeq GRCh38/hg38

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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")

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