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Gene SMARCA4
Variant R1413Qfs*41
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 R1413Qfs*41 indicates a shift in the reading frame starting at amino acid 1413 and terminating 41 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), R1413Qfs*41 is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 R1413Qfs*41

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Transcript NM_003072.5
gDNA chr19:g.11041374_11041375delGC
cDNA c.4238_4239delGC
Protein p.R1413Qfs*41
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017027163 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.(11041463_11058282) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.(11041463_11058285) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.(11041463_11058282) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128845 chr19:g.(11041463_11058282) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.(11041463_11058282) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128846 chr19:g.(11041463_11058285) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_003072 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.(11041463_11058285) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128844 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38
XM_017027165 chr19:g.(11041463_11058282) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
XM_017027166 chr19:g.(11041463_11058285) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.(11041463_11058285) c.(4237_4362) p.R1413Qfs*41 RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11041374_11041375delGC c.4238_4239delGC p.R1413Qfs*41 RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References