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Gene SMARCA4
Variant E1310V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 E1310V lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). E1310V has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 E1310V

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Transcript NM_003072.5
gDNA chr19:g.11034178A>T
cDNA c.3929A>T
Protein p.E1310V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451658.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_001128849 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_001128844 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_017027161 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_017027160 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_003072 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_006722846 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_006722845 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_011528198 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_017027163 chr19:g.11034178A>T c.3929A>T p.E1310V RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11034178A>T c.3929A>T p.E1310V 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
SMARCA4 E1310V unknown