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Gene SMARCB1
Variant E31K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 E31K lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). E31K has been identified in sequencing studies (PMID: 33845210, PMID: 37649695, PMID: 38527786), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 E31K

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Transcript NM_003073.5
gDNA chr22:g.23787260G>A
cDNA c.91G>A
Protein p.E31K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011530345 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_003073 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_001317946 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_001317946.2 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_001007468.3 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_001007468 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_001007468.2 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_001317946.1 chr22:g.23787260G>A c.91G>A p.E31K RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23787260G>A c.91G>A p.E31K 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References