Gene Variant Detail

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Gene CTNNB1
Variant K335I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 K335I lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K335I results in phosphorylation and protein stability similar to wild-type Ctnnb1 (PMID: 31857074), but is weakly activating as compared to wild-type Ctnnb1 in cultured cells (PMID: 24735922, PMID: 15579438), increases Ctnnb1 signaling activity and downstream target genes, and induces tumor growth in mouse models (PMID: 31857074).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 K335I

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Transcript NM_001098210.2
gDNA chr3:g.41227275A>T
cDNA c.1004A>T
Protein p.K335I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047447480.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_005264886 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001098209 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001098210 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001904 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_017005738 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_006712985 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41227275A>T c.1004A>T p.K335I RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41227275A>T c.1004A>T p.K335I 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries