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Gene SMARCA4
Variant E1393K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 E1393K lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). E1393K has been identified in sequencing studies (PMID: 31959546), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 E1393K

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Transcript NM_003072.5
gDNA chr19:g.11041313G>A
cDNA c.4177G>A
Protein p.E1393K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451662.1 chr19:g.11041313G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_017027164 chr19:g.11041316G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.11041316G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
NM_003072 chr19:g.11041313G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11041313G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.11041316G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.11041316G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.11041316G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11041313G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.11041316G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_017027163 chr19:g.11041313G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11041313G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11041313G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.11041316G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
NM_001128844 chr19:g.11041313G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
XM_017027162 chr19:g.11041316G>A c.4177G>A p.E1393K RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11041313G>A c.4177G>A p.E1393K 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • 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