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@jax.org

Gene CTNNB1
Variant R587Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CTNNB1 R587Q does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R587Q has been identified in sequencing studies (PMID: 29937994, PMID: 29107334, PMID: 33021522), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Aug 2021).
Associated Drug Resistance

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.

Transcript NM_001098210.1
gDNA chr3:g.41235800G>A
cDNA c.1760G>A
Protein p.R587Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098210 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
NM_001904 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
XM_006712985 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
XM_017005738 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
XM_005264886 chr3:g.41235800G>A c.1760G>A p.R587Q RefSeq GRCh38/hg38
NM_001098209 chr3:g.41235800G>A c.1760G>A p.R587Q 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CTNNB1 mutant endometrial cancer predicted - sensitive Cabozantinib Case Reports/Case Series Actionable In a Phase II (NCI9322/PHL86) trial, Cometriq (Cabometyx, cabozantinib) treatment resulted in a response rate of 40% (4/10) and a 12-week progression-free survival rate of 70% (7/10) in patients with endometrial cancer harboring CTNNB1 mutations, with a median PFS of 7.6 months (PMID: 31992589; NCT01935934). 31992589
CTNNB1 mutant colorectal cancer sensitive BC21 Preclinical Actionable In a preclinical study, BC21 inhibited growth and viability of a colorectal cancer cell line with a CTNNB1 mutation and increased beta-catenin expression in culture (PMID: 22224445). 22224445
CTNNB1 mutant hepatocellular carcinoma sensitive PMED-1 Preclinical Actionable In a preclinical study, PMED-1 decreased Wnt expression and decreased proliferation of hepatocellular carcinoma cells with Ctnnb1 mutations (PMID: 24819961). 24819961
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
CTNNB1 mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
CTNNB1 mutant endometrial cancer predicted - sensitive Temsirolimus Phase II Actionable In a retrospective study of a Phase II trial, Torisel (temsirolimus) treatment resulted in an increased progression-free survival (HR 0.46) but not response rate (response difference 0.00) in advanced endometrial cancer patients harboring CTNNB1 mutations (PMID: 27016228). 27016228
Molecular Profile Protein Effect Treatment Approaches
CTNNB1 R587Q unknown