CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants
Authors' conclusion
We developed CASRdb, a database that compiles information on all CASR variants associated with disorders of calcium metabolism from existing literature and genomic databases. Our database stands out due to the substantially higher number of disease-associated variants it contains, highlighting its comprehensive nature. The website is available at http://casrdb.mgh.harvard.edu.
Study context
- Population
- Disease-associated calcium-sensing receptor (CASR) variants (FHH1 and ADH1) from literature and genomic databases498 variants
- Outcome
- CASR variants identified
Methodological detailsEmbase and PubMed from inception to March 2023, ClinVar and LOVD P/likely pathogenic (LP) variants, Benign or likely benign variants excluded; Variants of uncertain significance (VUS) included only if reported in the literature
- Embase and PubMed from inception to March 2023
- ClinVar and LOVD P/LP variants
- Benign or likely benign variants excluded; VUS included only if reported in the literature
Pooled result
As reported in the abstract
- Total variants
- 498
- Associated with ADH1
- 121 (24.3%)
- Associated with FHH1
- 377 (75.7%)
- From literature: activating variants
- 117
- From literature: inactivating variants
- 352
- Activating variants not documented in ClinVar/LOVD
- 73/117, 62.4%
- Inactivating variants not documented in ClinVar/LOVD
- 207/352, 58.8%
Original publication
CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants. J Clin Endocrinol Metab. Published 1 November 2024. doi:10.
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