Integrated Bioinformatics Resource for Rare Diseases

Variant Information for Gene: -

Associated Diseases: -

Ensembl Transcript: - Refseq: - Uniprot: -

RARe-SOURCE™ provides access to known variants in genes associated with rare diseases. These variants were downloaded from many public sources including gnomAD and ClinVar, and annotated using OpenCravat. Additional annotations such as AlphaMissense were also included. In addition, the RARe-SOURCE™ has manually created variants from literature for one rare disease, X-linked creatine transporter deficiency and is in the process of curating variants for Farber’s disease.

Variant Annotations – A tabular listing of variants obtained from multiple databases along with annotations for these variants. Interactive visualizations to select and filter variants by their type and genic location, minor allele frequency or pathogenicity predictions.
Manually Curated Variants – Clinical and functional details of manually curated variants obtained from literature. Currently available for SLC6A8 (X-linked creatine transporter deficiency) with Interactive visualizations to select and filter variants by gene or protein location, pathogenicity and creatine uptake measurements.
3D Protein Structure – An integrated 2D-3D visualization of protein features from UniProt on the protein structure.