How does the curation team handle instances where multiple variants may result in the same functional consequence (e.g. splice, frameshift)?

Articles may use different or non-standardized nomenclature to describe the same variant. To ensure accurate indexing, Mastermind groups variants using broader protein-level categories. For example, multiple cDNA changes resulting in p.R123* will be indexed and curated under that protein variant. This approach ensures that articles referring only to the protein-level variant can still be accurately indexed and curated. Frameshift variants are similarly grouped using broader protein nomenclature (e.g., p.N1926fs). It should be noted that this process often leads to the grouping of frameshift variants with different reading frame alterations (following insertions or deletions) into the same bucket. PMIDs with nucleotide-level matches are marked with a target symbol in the articles list. If no articles are found to contain nucleotide-level variant matches, only articles containing bucketed variants are shown. These articles will not be marked with a target symbol.