- Course overview
- Search within this course
- What is genetic variation?
- Exploring publicly available data
- European Variation Archive
- Browsing genomes with Ensembl
- Ensembl Variant Effect Predictor
- Investigating variation with UniProt
- European Genome-Phenome Archive
- Investigating genotype-phenotype data using the GWAS Catalog
- Exploring somatic mutations in cancer
- Collection complete!
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Investigating variation with UniProt
Understanding protein function is critical to research in many areas of science such as biology, medicine and biotechnology. As the number of completely sequenced genomes continues to increase, huge efforts are being made in the research community to understand as much as possible about the proteins encoded by these genomes. This work is generating large amounts of data which are spread across multiple locations including scientific literature and many biological databases.
The Universal Protein Resource (UniProt) is a freely-available, comprehensive resource for protein sequence and functional data.
UniProt can help you explore genetic variation in a protein context. This includes variant interpretation via functional and structural annotations as well as mapping new genomic datasets to protein coding space.
For an introduction to UniProt, complete this online tutorial, which will take 2-3 hours:
UniProt: Exploring protein sequence and functional information
Review these slides to learn more about how you can use UniProt to investigate variation:
In the final section of this collection, learn more about the GWAS Catalog.