Gene Variant Detail

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

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Transcript NM_001098210
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
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_017005738 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_001098209 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References