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A portal to Swiss-Prot diseases and variants

SwissVar is a portal to search variants in Swiss-Prot entries of the UniProt Knowledgebase (UniProtKB), and gives direct access to the Swiss-Prot Variant pages.

The Swiss-Prot Variant pages summarize all the information related to a particular variant and contain:

  • manual annotation on the genotype-phenotype relationship of each specific variant based on literature;
  • pre-computed information (such as conservation scores and a list of structural features when available) to help assess the effect of the variant;

Three main search categories are provided:

Search categories Functionalities
Disease Enable search using disease names, OMIM identifier, as well as MeSH terms or identifiers of the disease category
Protein Enable search using protein or gene names, UniProt accession number or identifier
Functional/structural features Enable search using a list of functional and structural parameters of the variant

The combination of the above three categories is possible, and results can be downloaded in xml or tab-delimited format.

The SwissVar portal was created in the framework of the UniMed project funded by the Swiss National Science Foundation (grant No 3100A0-113970) and the European Community's Seventh Framework Programme under grant agreement 200754 (the GEN2PHEN project).

Disclaimer: Any medical or genetic information in this portal is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. The information is meant for health professionals, scientists and researchers. The information provided is not meant for the patients.

We make no warranties regarding the correctness of the data, and disclaim liability or damages resulting from its use.

The data are under the Creative Commons Attribution-NoDerivs License.