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Gene SMARCA4
Variant L1202Pfs*14
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 L1202Pfs*14 indicates a shift in the reading frame starting at amino acid 1202 and terminating 14 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), L1202Pfs*14 is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 L1202Pfs*14

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Transcript NM_003072.3
gDNA chr19:g.11033348delT
cDNA c.3605delT
Protein p.L1202Pfs*14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451658.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.11033348delT c.3605delT p.L1202Pfs*14 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References