Gene Variant Detail

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Gene SMARCA4
Variant M272fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 M272fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 272 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), M272fs is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 M272fs

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Transcript NM_003072.5
gDNA chr19:g.(10986957_10986958)
cDNA c.(814_813)
Protein p.M272fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017027164 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_017027162 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128844 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128847 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_017027160 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_017027168 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128845 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_011528198 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_017027165 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128846 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128849 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_017027163 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_003072.3 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_017027161 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_017027167 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128848 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_017027166 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_003072.5 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_003072 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_006722845 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_006722846 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.(10986957_10986958) c.(814_813) p.M272fs RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.(10986957_10986958) c.(814_813) p.M272fs 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