VarSite is a web server mapping known disease-associated variants from UniProt and ClinVar, together with natural variants from gnomAD, onto protein 3D structures in the Protein Data Bank. The analyses are primarily image-based and provide both an overview for each human protein, as well as a report for any specific variant of interest. The information can be useful in assessing whether a given variant might be pathogenic or benign. The structural annotations for each position in the protein include protein secondary structure, interactions with ligand, metal, DNA/RNA, or other protein, and various measures of a given variant's possible impact on the protein's function. The 3D locations of the disease-associated variants can be viewed interactively via the 3dmol.js JavaScript viewer, as well as in RasMol and PyMOL. Users can search for specific variants, or sets of variants, by providing the DNA coordinates of the base change(s) of interest. Additionally, various agglomerative analyses are given, such as the mapping of disease and natural variants onto specific Pfam or CATH domains. The server is freely accessible to all at: https://www.ebi.ac.uk/thornton-srv/databases/VarSite.

中文翻译：

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VarSite：疾病变异和蛋白质结构。

VarSite 是一个网络服务器，将来自 UniProt 和 ClinVar 的已知疾病相关变体以及来自 gnomAD 的自然变体映射到蛋白质数据库中的蛋白质 3D 结构。这些分析主要基于图像，提供每种人类蛋白质的概述，以及任何感兴趣的特定变体的报告。这些信息可用于评估给定变异是否可能是致病性的还是良性的。蛋白质中每个位置的结构注释包括蛋白质二级结构、与配体、金属、DNA/RNA 或其他蛋白质的相互作用，以及给定变体对蛋白质功能可能影响的各种测量。可以通过 3dmol.js JavaScript 查看器以及 RasMol 和 PyMOL 交互式查看与疾病相关的变异的 3D 位置。用户可以通过提供感兴趣的碱基变化的 DNA 坐标来搜索特定变体或变体组。此外，还提供了各种聚集分析，例如将疾病和自然变异映射到特定的 Pfam 或 CATH 域。所有人都可以免费访问该服务器：https://www.ebi.ac.uk/thornton-srv/databases/VarSite。