Gene Variant Detail

Gene CTNNB1
Variant E55K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CTNNB1 E55K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). The functional effect of E55K is conflicting, as it has been reported in cases to be associated with nuclear accumulation of Ctnnb1 and to be associated with no nuclear accumulation of Ctnnb1 protein (PMID: 10213482).
Associated Drug Resistance

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Transcript NM_001098210
gDNA chr3:g.41224675G>A
cDNA c.163G>A
Protein p.E55K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098209 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001904 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224675G>A c.163G>A p.E55K 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 E55K unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References