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 S391Pfs*20
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 S391Pfs*20 indicates a shift in the reading frame starting at amino acid 391 and terminating 20 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), S391Pfs*20 is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 S391Pfs*20

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.10989369delT
cDNA c.1171delT
Protein p.S391Pfs*20
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722846 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128845 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027167 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_003072 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_011528198 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027165 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_003072.5 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_006722845 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128848 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027161 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027162 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027160 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027168 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128849 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128846 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027163 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128847 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027166 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128844 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
NM_003072.3 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_017027164 chr19:g.10989369delT c.1171delT p.S391Pfs*20 RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.10989369delT c.1171delT p.S391Pfs*20 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