Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene CTNNB1
Variant S33C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 S33C lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 15064718). S33C confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-driven transcription (PMID: 10076565, PMID: 21881488, PMID: 19582367).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 S33C

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.

Transcript NM_001098210.2
gDNA chr3:g.41224610C>G
cDNA c.98C>G
Protein p.S33C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098210 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
NM_001904 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224610C>G c.98C>G p.S33C RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224610C>G c.98C>G p.S33C 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
  • 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.

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