Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene SMARCA4
Variant R1189Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions SMARCA4 R1189Q lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1189Q results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling in an vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 R1189Q

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.

Transcript NM_003072.5
gDNA chr19:g.11033309G>A
cDNA c.3566G>A
Protein p.R1189Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451663.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_003072 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027167 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128845 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027165 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027162 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128848 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_006722846 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_006722845 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128844 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027168 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027164 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128849 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027160 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027166 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128847 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_011528198 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
NM_001128846 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027161 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.11033309G>A c.3566G>A p.R1189Q RefSeq GRCh38/hg38
XM_017027163 chr19:g.11033309G>A c.3566G>A p.R1189Q 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 Protein Effect Treatment Approaches
SMARCA4 R1189Q loss of function