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Gene SMARCB1
Variant Q243*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 Q243* results in a premature truncation of the Smarcb1 protein at amino acid 243 of 385 (UniProt.org). Q243* has been identified in the scientific literature (PMID: 9892189, PMID: 22895193, PMID: 26343384), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 Q243*

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Transcript NM_003073.5
gDNA chr22:g.23816868C>T
cDNA c.727C>T
Protein p.Q243*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073.5 chr22:g.23816868C>T c.727C>T p.Q243* RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23816868C>T c.727C>T p.Q243* RefSeq GRCh38/hg38
NM_003073 chr22:g.23816868C>T c.727C>T p.Q243* 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References