PARALOG Annotator v0.4.3

PARALOG Annotator

Input a query variant bellow or click here to input a list or variants or upload a vcf file. All variants in Genome build GRCh37 coordinates. The ClinVar version used is 20250623.

e.g.
1-115256528-T-G

Paralogue Annotation utilizes information from evolutionarily related proteins, specifically paralogues, to help inform the clinical significance of missense variants associated with human diseases.

Shown below are missense variants annotated as Pathogenic or Likely Pathogenic in ClinVar found at the equivalent amino acid residue of other members of the protein family by Paralogue Annotation.
The ClinVar version used is 20250623.

Shown below are all the equivalent amino acid positions across all members of the paralogous family

Shown below are missense variants annotated as Pathogenic or Likely Pathogenic in ClinVar found at the equivalent amino acid residue of other homologous proteins that share a pfam protein domain.

PARALOG Annotator

Input your variants

Genome build GRCh37

Maximum number of variants for upload: 50

Paralogous Annotations

All Paralogous Positions

Homologous Pfam Annotations

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