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Gene SMARCB1
Variant Q18*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCB1 Q18* results in a premature truncation of the Smarcb1 protein at amino acid 18 of 385 (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), Q18* is predicted to lead to a loss of Smarcb1 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 inact mut SMARCB1 Q18*

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Transcript NM_003073.5
gDNA chr22:g.23787221C>T
cDNA c.52C>T
Protein p.Q18*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001317946.1 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001317946 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001007468 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001007468.2 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_003073 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_011530345 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001007468.3 chr22:g.23787221C>T c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001317946.2 chr22:g.23787221C>T c.52C>T p.Q18* 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 )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References