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Gene SMARCE1
Variant Y119fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions SMARCE1 Y119fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 119 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). Y119fs has not been characterized in the scientific literature and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Associated Drug Resistance
Category Variants Paths

SMARCE1 mutant SMARCE1 Y119fs

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Transcript NM_003079.5
gDNA chr17:g.(40636409_40636410)
cDNA c.(355_354)
Protein p.Y119fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003079.5 chr17:g.(40636409_40636410) c.(355_354) p.Y119fs RefSeq GRCh38/hg38
NM_003079.4 chr17:g.(40636409_40636410) c.(355_354) p.Y119fs 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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  • 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