CTNNB1 K49E - Gene Variant Detail

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Gene CTNNB1
Variant K49E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CTNNB1 K49E does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). K49E is associated with nuclear accumulation of Ctnnb1 in the presence of P44L in patient samples (PMID: 12474227), and is transforming in the context of K19R or K19E (PMID: 16849322), but has not been individually characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 K49E

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Transcript NM_001098210.2
gDNA chr3:g.41224657A>G
cDNA c.145A>G
Protein p.K49E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098209.2 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
NM_001904 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224657A>G c.145A>G p.K49E RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224657A>G c.145A>G p.K49E 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