Gene Variant Detail

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Gene SMARCB1
Variant E31V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 E31V lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). E31V has been reported to alter a donor splice site and disrupt Smarcb1 mRNA expression in a patient sample (PMID: 19582488), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 E31V

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Transcript NM_003073.5
gDNA chr22:g.23787261A>T
cDNA c.92A>T
Protein p.E31V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001317946.2 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
XM_011530345 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_003073 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001007468 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001007468.2 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001317946 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001317946.1 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001007468.3 chr22:g.23787261A>T c.92A>T p.E31V 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

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Molecular Profile Protein Effect Treatment Approaches
SMARCB1 E31V unknown CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34