Gene Variant Detail

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Gene SMARCA4
Variant E882K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 E882K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). E882K results in increased PRC1 occupancy at CpG-rich promoters (PMID: 27941795), but demonstrates decreased FRAP recovery time in an in vitro assay (PMID: 29323272) and cell growth similar to wild-type Smarca4 in culture, 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), and therefore, is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 E882K

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Transcript NM_003072.5
gDNA chr19:g.11021752G>A
cDNA c.2644G>A
Protein p.E882K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722845.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027167 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027161 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_006722845 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027162 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128848 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128844 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128847 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027165 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027168 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128849 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128846 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_006722846 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027164 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_011528198 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027163 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128845 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027166 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_003072 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
XM_017027160 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11021752G>A c.2644G>A p.E882K RefSeq GRCh38/hg38

Filtering

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  • 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