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Gene SMARCA4
Variant R973L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions SMARCA4 R973L does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R973L results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling activity in an in vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and partial inability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 R973L

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Transcript NM_003072.5
gDNA chr19:g.11023576G>T
cDNA c.2918G>T
Protein p.R973L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047439249.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.11023576G>T c.2918G>T p.R973L RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.11023576G>T c.2918G>T p.R973L 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