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Gene SMARCB1
Variant T118Pfs*25
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCB1 T118Pfs*25 indicates a shift in the reading frame starting at amino acid 118 and terminating 25 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), T118Pfs*25 is predicted to lead to a loss of Smarcb1 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 inact mut SMARCB1 T118Pfs*25

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Transcript NM_003073.5
gDNA chr22:g.23793678delA
cDNA c.352delA
Protein p.T118Pfs*25
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073 chr22:g.23793677delC c.351delC p.T118Pfs*25 RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23793678delA c.352delA p.T118Pfs*25 RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23793678delA c.352delA p.T118Pfs*25 RefSeq GRCh38/hg38
XM_011530345 chr22:g.23793677delC c.351delC p.T118Pfs*25 RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23793678delA c.352delA p.T118Pfs*25 RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23793678delA c.352delA p.T118Pfs*25 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")

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