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Gene CTNNB1
Variant H36R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 H36R does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). H36R results in pH-insensitive binding to the E3 ubiquitin protein ligase, Btrc, and increased Btrc binding in the presence of unphosphorylated Ctnnb1 in an in vitro assay, and the corresponding drosophila variant (H42R) leads to tumor formation in drosophila eyes and results in increased Wnt activity in a reporter assay (PMID: 30315137).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 H36R

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Transcript NM_001098210.2
gDNA chr3:g.41224619A>G
cDNA c.107A>G
Protein p.H36R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047447478.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001904 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38

Filtering

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  • 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