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Gene SMARCB1
Variant S94L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 S94L lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). S94L has not been characterized in the scientific literature and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 S94L

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Transcript NM_003073.5
gDNA chr22:g.23793607C>T
cDNA c.281C>T
Protein p.S94L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011530345.2 chr22:g.23793607C>T c.281C>T p.S94L RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23793607C>T c.281C>T p.S94L RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23793607C>T c.281C>T p.S94L RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23793607C>T c.281C>T p.S94L RefSeq GRCh38/hg38
XM_011530345 chr22:g.23793607C>T c.281C>T p.S94L RefSeq GRCh38/hg38
NM_003073 chr22:g.23793607C>T c.281C>T p.S94L 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
SMARCB1 S94L unknown