ArticleHuman genetics2015
Types and effects of protein variations.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed.
- Identification of Growth-Related Single-Nucleotide Polymorphisms in the cAMP-Dependent Protein Kinase Type I Regulatory Subunit-like Gene of the Oriental River Prawn,International journal of molecular sciences · 2026Article
- Whole-Exome and Whole-Genome Sequencing of Candidate Pharmacogenomic and Schizophrenia-Related Genes in Sudanese Families with Schizophrenia.Pharmacogenomics and personalized medicine · 2026Article
- Physicochemical and thermodynamic properties of purified rhodanese from A. welwitschiae LOT1 and the cyanide detoxification potential of the enzyme.World journal of microbiology & biotechnology · 2024Article
- In Vivo Biocompatibility Study on Functional Nanostructures Containing Bioactive Glass and Plant Extracts for Implantology.International journal of molecular sciences · 2024Article
- Unveiling the dynamic expression of PR-1 during Musa spp. infection by Fusarium oxysporum fsp. Cubense: a cloning and characterization study.Molecular biology reports · 2024Article
- Sperm HSP70: may not be an age-dependent gene but is associated with field fertility in Bali bulls (Animal reproduction · 2024Article
- Understanding Biosimilar Insulins - Development, Manufacturing, and Clinical Trials.Journal of diabetes science and technology · 2023Review
- Large-Scale Plasma Proteome Epitome Profiling is an Efficient Tool for the Discovery of Cancer Biomarkers.Molecular & cellular proteomics : MCP · 2023Article
- Characterization and functional analyses of wheat TaPR1 genes in response to stripe rust fungal infection.Scientific reports · 2023Article
- Systematic errors in annotations of truncations, loss-of-function and synonymous variants.Frontiers in genetics · 2023Article
- Individual Genetic Heterogeneity.Genes · 2022Review
- An Electrostatically-steered Conformational Selection Mechanism Promotes SARS-CoV-2 Spike Protein Variation.Journal of molecular biology · 2022Article
- The potential of sperm bovine protamine as a protein marker of semen production and quality at the National Artificial Insemination Center of Indonesia.Veterinary world · 2021Article
- Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants.Human genetics · 2021Article
- Systematics for types and effects of RNA variations.RNA biology · 2021Article
- Homology modeling and global computational mutagenesis of human myosin VIIa.Journal of analytical & pharmaceutical research · 2021Article
- Poikilosis - pervasive biological variation.F1000Research · 2020Article
- Systematics for types and effects of DNA variations.BMC genomics · 2018Review
- PON-SC - program for identifying steric clashes caused by amino acid substitutions.BMC bioinformatics · 2017Article
- PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.Human mutation · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Variations in proteins have very large number of diverse effects affecting sequence, structure, stability, interactions, activity, abundance and other properties. Although protein-coding exons cover just over 1 % of the human genome they harbor an disproportionately large portion of disease-causing variants. Variation ontology (VariO) has been developed for annotation and description of variation effects, mechanisms and consequences. A holistic view for variations in proteins is made available along with examples of real cases. Protein variants can be of genetic origin or emerge at protein level. Systematic names are provided for all variation types, a more detailed description can be made by explaining changes to protein function, structure and properties. Examples are provided for the effects and mechanisms, usually in relation to human diseases. In addition, the examples are selected so that protein 3D structural changes, when relevant, are included and visualized. Here, systematics is described for protein variants based on VariO. It will benefit the unequivocal description of variations and their effects and further reuse and integration of data from different sources.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.