Gene Variant Detail

Gene CTNNB1
Variant D32H
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions CTNNB1 D32H lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32H is predicted to confer a gain of function on the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 17163846).
Associated Drug Resistance

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Transcript NM_001098210
gDNA chr3:g.41224606G>C
cDNA c.94G>C
Protein p.D32H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264886 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
NM_001904 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224606G>C c.94G>C p.D32H 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 D32H gain of function - predicted CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References