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Gene SMARCB1
Variant P230Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 P230Q lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). P230Q has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 P230Q

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Transcript NM_003073.5
gDNA chr22:g.23816830C>A
cDNA c.689C>A
Protein p.P230Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073.5 chr22:g.23816830C>A c.689C>A p.P230Q RefSeq GRCh38/hg38
NM_003073 chr22:g.23816830C>A c.689C>A p.P230Q RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23816830C>A c.689C>A p.P230Q 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