Gene Variant Detail

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Gene SMARCA4
Variant A636fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 A636fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 636 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), A636fs is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 A636fs

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Transcript NM_003072.5
gDNA chr19:g.(11003121_11003122)
cDNA c.(1906_1905)
Protein p.A636fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001128847.4 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_006722845 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_017027161 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_017027160 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128848 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128849 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128846 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_017027164 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_017027165 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
NM_001128844 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
NM_003072.5 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_017027166 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_011528198 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128845 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_003072 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_006722846 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_003072.3 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_017027162 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128847 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_017027163 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_017027168 chr19:g.11003121delA c.1905delA p.A636fs*10 RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.(11003121_11003122) c.(1906_1905) p.A636fs RefSeq GRCh38/hg38
XM_017027167 chr19:g.11003121delA c.1905delA p.A636fs*10 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries