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 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 to be associated both with and without nuclear accumulation of Ctnnb1 in patient samples (PMID: 10213482), and a Ctnnb1 peptide with E55K results in reduced phosphorylation by Ck1 in an in vitro assay (PMID: 12925738), and therefore, its effect on Ctnnb1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 E55K

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.41224675G>A
cDNA c.163G>A
Protein p.E55K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017005738.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447479.1 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
XM_024453358.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_024453356.2 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
XM_017005738.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447480.1 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_047447483.1 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
NM_001098209 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447478.1 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_001098209.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224675G>A c.163G>A p.E55K 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