Global query for disease - protein - variant associations
Enter a disease (e.g.: cataract), a protein or gene name (e.g.: Plasminogen)
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Disease Query
Browse MeSH
or or
Enter a Disease (e.g.: cataract), MeSH unique ID (e.g.: D002386) or MIM number (e.g.: 604219)
Only proteins having variants related to the disease
Protein Query
or
Enter a gene name (e.g.: NIPBL), a protein name (e.g.: Nipped-B-like protein) or a Swiss-Prot accession number (e.g.: Q6KC79) or id (e.g.: NIPBL_HUMAN)
Proteins implicated in at least one disease in more than one disease
Variants Query
Variants: Polymorphism Disease-related Unclassified All
Enter a FTID (e.g.: 'VAR_008278') or rsID (e.g.: 'rs2064317')
+ Sequence features
Variant at Sequence position of UniProt entry enter a Swiss-Prot ac (e.g.: Q6KC79) or id (e.g.: NIPBL_HUMAN)
Substitution from Choose amino acid Ala Cys Asp Glu Phe Gly His Ile Lys Leu Met Asn Pro Gln Arg Ser Thr Val Trp Tyr Polar Hydrophobic to Choose amino acid Ala Cys Asp Glu Phe Gly His Ile Lys Leu Met Asn Pro Gln Arg Ser Thr Val Trp Tyr Polar Hydrophobic
Blosum score change <=
Variant distant from residues or less of a Swiss-Prot feature choose feature active site alternative sequence binding site calcium binding cross-link disulfide bond dna binding domain glycosylation lipidation metal binding modified residue motif mutagenesis nucleotide binding other site zinc finger
+ Structural features
Variants mapped on 3D structure with 3D models or any of both
Variant involved in a protein-protein interface
Variant within 3 4 5 6 Å of a Swiss-Prot feature choose feature active site alternative sequence binding site calcium binding cross-link disulfide bond dna binding domain glycosylation lipidation metal binding modified residue motif mutagenesis nucleotide binding other site zinc finger
