RareVariants Laboratory

Pathogenicity Predictors

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TruncPred

Predict the pathogenicity for Protein-Truncating Variants across the entire human proteome.

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HomolVar

Predict the pathogenicity of missense variants from homologous proteins.

Explore Tool Publication
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TMSNP

Predict the pathogenicity of missense variants in transmembrane regions of membrane proteins.

Explore Tool Publication

Tools for specific genes

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GRINdb

Check GRIN variants and their related functional and clinical annotations.

Explore Tool Publication
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GLDC

Check GLDC variants Database