Gene Variant Detail

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Gene SMARCA4
Variant R1243Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions SMARCA4 R1243Q lies within the Helicase C-terminal domain of the Smarca4 protein (UniProt.org). R1243Q interacts with H4R3me2a similar to wild-type Smarca4 in an in vitro assay and results in proliferation, colony formation, and migration comparable to wild-type protein in culture (PMID: 36922568), and therefore, is predicted to have no effect on Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 R1243Q

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Transcript NM_003072.5
gDNA chr19:g.11033471G>A
cDNA c.3728G>A
Protein p.R1243Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451658.2 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.11033471G>A c.3728G>A p.R1243Q RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11033471G>A c.3728G>A p.R1243Q 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries