Gene Variant Detail

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Gene SMARCA4
Variant K546del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions SMARCA4 K546del results in the deletion of an amino acid of the Smarca4 protein at amino acid 546 (UniProt.org). K546del has been identified in sequencing studies (PMID: 33845210), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 K546del

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Transcript NM_003072.5
gDNA chr19:g.10996255_10996257delAAG
cDNA c.1636_1638delAAG
Protein p.K546del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001411150.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
NM_003072.5 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
NM_003072.3 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.10996255_10996257delAAG c.1636_1638delAAG p.K546del 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