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Gene SMARCE1
Variant P175fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions SMARCE1 P175fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 175 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). P175fs 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 P175fs

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Transcript NM_003079.5
gDNA chr17:g.(40635949_40635950)
cDNA c.(523_522)
Protein p.P175fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003079.4 chr17:g.(40635949_40635950) c.(523_522) p.P175fs RefSeq GRCh38/hg38
NM_003079.5 chr17:g.(40635949_40635950) c.(523_522) p.P175fs 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