CTNNB1 P44L
Gene Variant Detail

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Gene CTNNB1
Variant P44L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 P44L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44L confers a gain of function to Ctnnb1 as it results in decreased serine phosphorylation of Ctnnb1 in cell culture and increased transcriptional activity in a reporter assay compared to wild-type Ctnnb1 (PMID: 31970420).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 P44L

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Transcript NM_001098210.2
gDNA chr3:g.41224643C>T
cDNA c.131C>T
Protein p.P44L
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.