SwissVar
A portal to search variants (polymorphism) in UniProt Knowledgebase (UniProtKB) entries, and gives direct access to manual annotation on the genotype-phenotype relationship of each specific variant based on literature, as well as pre-computed information (such as conservation scores and a list of structural features when available) to help assess the effect of the variant.
Description
More detailed information about this field from each metasource.
A portal to search variants (polymorphism) in UniProt Knowledgebase (UniProtKB) entries, and gives direct access to manual annotation on the genotype-phenotype relationship of each specific variant based on literature, as well as pre-computed information (such as conservation scores and a list of structural features when available) to help assess the effect of the variant.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:36.114175
Webpage:
http://swissvar.expasy.org/Webpage
More detailed information about this field from each metasource.
Publications:
Publications
More detailed information about this field from each metasource.
Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
PMID: 20106818
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:36.114175
Publications
More detailed information about this field from each metasource.
Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
PMID: 20106818
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:36.114175
-
Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
PubMed citations: 62.
62 articles citing: Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination. PMID:35122187
Variant pathogenic prediction by locus variability: the importance of the current picture of evolution. PMID:35079159
MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins. PMID:34938415
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India. PMID:34849271
Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel. PMID:34803699
Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family. PMID:34641644
Predicting functional consequences of mutations using molecular interaction network features. PMID:34432150
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country. PMID:34395220
Retinoblastoma genetics screening and clinical management. PMID:34294096
Analysis and Interpretation of the Impact of Missense Variants in Cancer. PMID:34063805
Influence of Disease-Causing Mutations on Protein Structural Networks. PMID:33778000
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. PMID:33680884
TMSNP: a web server to predict pathogenesis of missense mutations in the transmembrane region of membrane proteins. PMID:33655207
Family-specific analysis of variant pathogenicity prediction tools. PMID:33575576
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution. PMID:33543123
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. PMID:33219223
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. PMID:33138774
Protein-Protein Interactions Mediated by Intrinsically Disordered Protein Regions Are Enriched in Missense Mutations. PMID:32722039
In silico analysis on the functional and structural impact of Rad50 mutations involved in DNA strand break repair. PMID:32509463
Mutation severity spectrum of rare alleles in the human genome is predictive of disease type. PMID:32413045
Rhapsody: predicting the pathogenicity of human missense variants. PMID:32101277
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants. PMID:31599023
Pathway-specific protein domains are predictive for human diseases. PMID:31075101
HuVarBase: A human variant database with comprehensive information at gene and protein levels. PMID:30703169
Integrating molecular networks with genetic variant interpretation for precision medicine. PMID:30548534
Representativeness of variation benchmark datasets. PMID:30497376
Structural dynamics is a determinant of the functional significance of missense variants. PMID:29610305
Prediction and interpretation of deleterious coding variants in terms of protein structural stability. PMID:29540703
Asparagine Synthetase deficiency-report of a novel mutation and review of literature. PMID:28776279
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges. PMID:28508593
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. PMID:28188534
Blind prediction of deleterious amino acid variations with SNPs&GO. PMID:28102005
PANTHER version 11: expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements. PMID:27899595
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. PMID:27666373
Prevalent Accumulation of Non-Optimal Codons through Somatic Mutations in Human Cancers. PMID:27513638
Computational assessment of feature combinations for pathogenic variant prediction. PMID:27468419
Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. PMID:27270698
SNP2Structure: A Public and Versatile Resource for Mapping and Three-Dimensional Modeling of Missense SNPs on Human Protein Structures. PMID:26949480
ELM 2016--data update and new functionality of the eukaryotic linear motif resource. PMID:26615199
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases. PMID:26495027
Identification of cis-suppression of human disease mutations by comparative genomics. PMID:26123021
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. PMID:25684150
Human germline and pan-cancer variomes and their distinct functional profiles. PMID:25232094
IthaGenes: an interactive database for haemoglobin variations and epidemiology. PMID:25058394
SDS, a structural disruption score for assessment of missense variant deleteriousness. PMID:24795746
A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i). PMID:24742296
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation. PMID:24365473
NECTAR: a database of codon-centric missense variant annotations. PMID:24297257
The role of balanced training and testing data sets for binary classifiers in bioinformatics. PMID:23874456
Collective judgment predicts disease-associated single nucleotide variants. PMID:23819846
WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation. PMID:23819482
Estimating the rate of irreversibility in protein evolution. PMID:23132897
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. PMID:23033316
Prediction of phenotypes of missense mutations in human proteins from biological assemblies. PMID:22965855
Disease-related mutations predicted to impact protein function. PMID:22759649
KD4v: Comprehensible Knowledge Discovery System for Missense Variant. PMID:22641855
Bioinformatics and variability in drug response: a protein structural perspective. PMID:22552919
MSV3d: database of human MisSense Variants mapped to 3D protein structure. PMID:22491796
Bioinformatics for personal genome interpretation. PMID:22247263
A ribosomal misincorporation of Lys for Arg in human triosephosphate isomerase expressed in Escherichia coli gives rise to two protein populations. PMID:21738601
Meet me halfway: when genomics meets structural bioinformatics. PMID:21350909
PICMI: mapping point mutations on genomes. PMID:20940168
Tags:
Tags
More detailed information about this field from each metasource.
genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:36.114175
protein variants
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:36.114175
pathology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:36.114175
Tags
More detailed information about this field from each metasource.
genotype and phenotype
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:36.114175
protein variants
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:36.114175
pathology
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:36.114175
genotype and phenotype protein variants pathology
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