CTNNB1 S45del
Gene Variant Detail

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Gene CTNNB1
Variant S45del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 S45del results in the deletion of an amino acid at a Gsk3b phosphorylation site of the Ctnnb1 protein at amino acid 45 (PMID: 9065402). S45del confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization and nuclear accumulation of Ctnnb1 (PMID: 9065402, PMID: 21084400).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 S45del

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Transcript NM_001904.4
gDNA chr3:g.41224645_41224647delTCT
cDNA c.133_135delTCT
Protein p.S45delS
Source Database RefSeq
Genome Build 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.