The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association
Year: 2004
Type: article
Abstract: In this report, we introduce the CDKN2A Database, an online database of germline and somatic variants of the CDKN2A tumor suppressor gene recorded in human disease through the year 2002, annotated with evolutionary, structural, and functional information. The CDKN2A Database improves upon existing resources by: 1) including both somatic mutations and germline variants, thereby adding the perspective of somatic cell carcinogenesis to that of hereditary cancer predisposition; 2) including information that assists with the interpretation of allelic variants, such as other primary data (sequences, structures, alignments, functional measurements, and literature references) and annotations (extensive text, figures, and a tree-based phylogenetic classification); and 3) providing the information in a format that allows a user to either download the database or to easily manipulate it online. We describe the database structure, content, current uses, and potential implications (http://biodesktop.uvm.edu/perl/p16).
Source: Human Mutation
DOI: 10.1002/humu.20083
Institution: University of Vermont
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Awards: G1214106826, ANTIBODY ENGINEERING--MODELING AND BIOCHEMISTRY, G222768804, G2703251752, Vermont Genetics Network-Vermont INBRE, G3512157177, CANCER CENTER SUPPORT GRANT (CCSG), G4705549666, G5116074068, G6343450973, G7271753815, G7807392635, COMPUTATIONAL &LABORATORY STUDY OF P16/INK4 MUTATIONS
OpenAlex ID: W2150436334