Gene Variant Detail

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Gene SMARCB1
Variant T72Qfs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCB1 T72Qfs*13 indicates a shift in the reading frame starting at amino acid 72 and terminating 13 residues downstream causing a premature truncation of the 385 amino acid Smarcb1 protein (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), T72Qfs*13 is predicted to lead to a loss of Smarcb1 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 inact mut SMARCB1 T72Qfs*13

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Transcript NM_003073.5
gDNA chr22:g.23791876delA
cDNA c.214delA
Protein p.T72Qfs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073.4 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
NM_003073 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
XM_011530345 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23791876delA c.214delA p.T72Qfs*13 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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Molecular Profile Protein Effect Treatment Approaches
SMARCB1 T72Qfs*13 loss of function - predicted CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34