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Gene SMARCB1
Variant S252I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 S252I lies within the tandem repeat region of the Smarcb1 protein (UniProt.org). S252I has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 S252I

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Transcript NM_003073.5
gDNA chr22:g.23816896G>T
cDNA c.755G>T
Protein p.S252I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073 chr22:g.23816896G>T c.755G>T p.S252I RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23816896G>T c.755G>T p.S252I RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23816896G>T c.755G>T p.S252I 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References