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Gene SMARCB1
Variant R53Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 R53Q lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). R53Q has been identified in the scientific literature (PMID: 28692054, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 R53Q

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Transcript NM_003073.5
gDNA chr22:g.23791820G>A
cDNA c.158G>A
Protein p.R53Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001007468 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_001007468.3 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_001317946.1 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
XM_011530345 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_001317946 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_001007468.2 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_003073 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23791820G>A c.158G>A p.R53Q RefSeq GRCh38/hg38
NM_001317946.2 chr22:g.23791820G>A c.158G>A p.R53Q 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 )
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  • 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
  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries