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Gene SMARCB1
Variant K126N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 K126N does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). K126N has been identified in the scientific literature (PMID: 33625734), 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 K126N

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Transcript NM_003073.5
gDNA chr22:g.23800959G>C
cDNA c.378G>C
Protein p.K126N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073.4 chr22:g.23800959G>C c.378G>C p.K126N RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23800959G>C c.378G>C p.K126N RefSeq GRCh38/hg38
NM_003073 chr22:g.23800959G>C c.378G>C p.K126N RefSeq GRCh38/hg38
XM_011530345 chr22:g.23800959G>C c.378G>C p.K126N RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23800959G>C c.378G>C p.K126N RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23800959G>C c.378G>C p.K126N 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References