SMARCB1 L166Pfs*4
Gene Variant Detail

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Gene SMARCB1
Variant L166Pfs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCB1 L166Pfs*4 indicates a shift in the reading frame starting at amino acid 166 and terminating 4 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), L166Pfs*4 is predicted to lead to a loss of Smarcb1 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 inact mut SMARCB1 L166Pfs*4

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Transcript NM_003073.5
gDNA chr22:g.23801077dupC
cDNA c.496dupC
Protein p.L166Pfs*4
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001362877.2 chr22:g.23801077_23801078insCCCCCCCATAA c.496_497insCCCCCCCATAA p.L166Pfs*4 RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23801077dupC c.496dupC p.L166Pfs*4 RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23801077dupC c.496dupC p.L166Pfs*4 RefSeq GRCh38/hg38

Filtering

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  • 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