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Gene CTNNB1
Variant G48D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions CTNNB1 G48D does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). G48D is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11559529).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 G48D

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Transcript NM_001098210.2
gDNA chr3:g.41224655G>A
cDNA c.143G>A
Protein p.G48D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047447480.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001904 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224655G>A c.143G>A p.G48D RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224655G>A c.143G>A p.G48D 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