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Gene SMARCA4
Variant E371K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 E371K does not lie within any known functional domains of the Smarca4 protein (UniProt.org). E371K has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 E371K

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Transcript NM_003072.5
gDNA chr19:g.10987917G>A
cDNA c.1111G>A
Protein p.E371K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017027165 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_017027162 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_017027167 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128849 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_017027168 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_017027163 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_011528198 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128846 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128848 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_006722845 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128847 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128844 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_017027161 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_003072.5 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128845 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_017027166 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_003072.3 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_006722846 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_003072 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_017027160 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_017027164 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.10987917G>A c.1111G>A p.E371K RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 Protein Effect Treatment Approaches
SMARCA4 E371K unknown