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Gene SMARCB1
Variant K363N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 K363N does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). K363N demonstrates loss of binding to histone H3 and H2B in a Smarcb1 construct of the C-terminal domain compared to wild-type Smarcb1 in in vitro assays (PMID: 31759698), but has not been fully biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 K363N

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Transcript NM_003073.5
gDNA chr22:g.23833674G>C
cDNA c.1089G>C
Protein p.K363N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073 chr22:g.23833674G>C c.1089G>C p.K363N RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23833674G>C c.1089G>C p.K363N RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23833674G>C c.1089G>C p.K363N 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries