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@genomenon.com

Gene CTNNB1
Variant D32E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 D32E does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). D32E results in activation of Ctnnb1, as indicated by loss of membranous Ctnnb1 expression, increased nuclear Ctnnb1 expression, and increased TCF-1 and MITF-M expression in tumor samples (PMID: 14633602, PMID: 11950921).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 D32E

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.41224608C>G
cDNA c.96C>G
Protein p.D32E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024453356.2 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001904 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224608C>G c.96C>G p.D32E RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224608C>G c.96C>G p.D32E 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 Protein Effect Treatment Approaches
CTNNB1 D32E gain of function CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor