Help

Guidance for using the ADAMTS13 Variant Database, including search tools, variant pages, maps and structure resources.

Finding variants

Quick search

Use the homepage quick search to search across HGVS names, protein changes, rsIDs, ClinVar classifications, genomic coordinates and other variant fields.

Advanced search

Use the advanced search page to filter variants by type, effect, domain, exon/intron location, gnomAD allele frequency and linked patient records.

Browse variants Advanced search

Understanding variant pages

  • Evidence at a glance summarises linked patients, references, countries and predicted effect of variants.
  • Summary shows key variant identifiers including HGVS, protein change, rsID, ClinVar and gnomAD details.
  • References lists linked publications from the curated reference table.
  • Patient summary summarises clinical details from linked patient records.
  • Structure view highlights the amino-acid position on the local AlphaFold model when a residue position is available.

Maps and statistics

  • Variant map shows variants across the ADAMTS13 protein as a lollipop plot.
  • World map summarises countries represented in the linked patient dataset.
  • Statistics summarises variant type, predicted effect, ClinVar status, exon/intron location and domain distribution.
Variant map World map Statistics

Structures and references

  • Structures lists ADAMTS13 structural entries.
  • References allows browsing and filtering of publications supporting the variant database.
  • External resources such as gnomAD, Ensembl, UniProt, OMIM and AlphaFold are linked from relevant pages.
Structures References

Important note

This database is provided for scientific research purposes only and does not constitute medical advice. Clinical interpretation of genetic variants should be undertaken by appropriately qualified professionals.