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Gene SMARCE1
Variant Q230*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions SMARCE1 Q230* results in a premature truncation of the Smarce1 protein at amino acid 230 of 411 (UniProt.org). Q230* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Associated Drug Resistance
Category Variants Paths

SMARCE1 mutant SMARCE1 Q230*

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Transcript NM_003079.5
gDNA chr17:g.40632221G>A
cDNA c.688C>T
Protein p.Q230*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003079.4 chr17:g.40632221G>A c.688C>T p.Q230* RefSeq GRCh38/hg38
NM_003079.5 chr17:g.40632221G>A c.688C>T p.Q230* 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References