Other names: serping1
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population
genetic variation genotype and phenotype rna splicing gene transcripts pathology
The Leiden Open Variation Database (LOVD) provides a flexible, freely available tool for gene-centered collection and display of DNA variations. LOVD also stores patient-centered data, NGS data, and v ...
Linking RNA splicing and disease. Database that collects and curates data of RNA Splicing mutation and disease. The RNA Splicing mutations include cis-acting mutations that disrupt splicing and trans- ...
Genetic mutation database for rare diseases that enables to search, sort and filter genetic variants from clinically diagnosed individuals worldwide and make symptoms-based queries.
Review and classification of published variants in the ARSB gene. The purpose of this database is to support researchers and clinicians. understand structural changes on alylsulfatase B (ASB) caused ...
The Alternative Splicing Gallery (ASG) takes an identifier such as an EnsEMBL gene ID or a RefSeq ID as input, and provides a graph mapping splice events to transcript information. The user can also v ...
ADeditome provides the genomic landscape of A-to-I RNA editing in Alzheimer's disease.
Universal Mutation Database (UMD) is a database for mutations. UMD-predictor is a tool that enables functional annotation of variants to find the relevant ones.
Alternative splicing during development in 20 species
Annotates variants with biological data such as protein structural information, functionally important residues, conservation of functional domains and evidence of cross-species conservation.
Database to integrate epitranscriptome sequencing data for exploring post-transcriptionally modifications of RNAs, as well as their relationships with microRNA binding events, disease-related SNPs and ...
The SpliceDisease database provides information linking RNA splicing to human disease, including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference P ...
Inherited glycophosphatidylinositol deficiency variant database.
An atlas of 3'UTR alternative polyadenylation quantitative trait loci across human normal tissues.
circad is a comprehensive manually curated resource of circular RNA associated with diseases. Circular RNAs (circRNAs) are unique transcript isoforms characterised by back splicing of exon ends to for ...
Novel disease-associated variants, common sequence variants, and results from newborn screening. The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA g ...
NHLBI Exome Sequencing Project (ESP): Exome Variant Server (EVS) for browsing single nucleotide variation data from exome sequencing experiments mainly focused on heart, lung and blood disorders.
Virtual Chinese Genome Database (VCGDB) is a genome database of the Chinese population based on the whole genome sequencing data of 194 individuals. We are unsure when this database was last updated, ...
Variants of DNA mismatch repair genes derived from 33,998 Chinese individuals with and without cancer reveal their highly ethnic-specific nature. An open-access database of DNA mismatch repair (MMR) ...
A web service for studying gene expression in human skeletal muscle. MuscleAtlasExplorer(BETA)2.
516 unique variants and 831 patients registered in an updated centralized Variome database | OPA1 (optic atrophy 1 (autosomal dominant)) | Autosomal dominant optic atrophy (DOA, Kjer type, MIM#165500) ...