Gene Variant Detail

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Gene SMARCA4
Variant G271fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 G271fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 271 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), G271fs is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 G271fs

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Transcript NM_003072.5
gDNA chr19:g.(10986954_10986955)
cDNA c.(811_810)
Protein p.G271fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047439243.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128848 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_011528198 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027162 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128846 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027161 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027164 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027165 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027166 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_003072.5 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027163 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027160 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128844 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027167 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_006722845 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_006722846 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128849 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_017027168 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_003072 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128847 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_003072.3 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128845 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.(10986954_10986955) c.(811_810) p.G271fs 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References