ReviewProtein science : a publication of the Protein Society2014
Single nucleotide variations: biological impact and theoretical interpretation.
Review in Protein science : a publication of the Protein Society, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-analysis of association between Arg326Gln (rs1503185) and Gln276Pro (rs1566734) polymorphisms of PTPRJ gene and cancer risk.Journal of applied genetics · 2019Pooled it
- Molecular evolution in light of regulatory-coding epistasis.EMBO reports · 2026Review
- Whole-Genome Analysis of LSDV Isolates from the 2019 and 2023 Outbreaks in Israel Points to Undetected Circulation and Recombination Events.Veterinary sciences · 2026Article
- Association of Vitamin D Receptor Gene Polymorphisms with Periodontitis.Journal of dentistry (Shiraz, Iran) · 2026Article
- SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.NAR genomics and bioinformatics · 2026Article
- Article
- Genome-annotated bivariate analysis of shared heritability in autoimmune hepatitis with psychiatric comorbidity.Scientific reports · 2025Article
- Integration of proteomics profiling data to facilitate discovery of cancer neoantigens: a survey.Briefings in bioinformatics · 2025Review
- The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding.Blood advances · 2025Article
- Interactive effects between lead-cadmium co-exposure and VEGFA gene polymorphisms on renal dysfunction: a gene-environment interaction study.Frontiers in public health · 2025Article
- Advances in Genotyping Detection of Fragmented Nucleic Acids.Biosensors · 2024Review
- Genomic Mosaicism of the Brain: Origin, Impact, and Utility.Neuroscience bulletin · 2024Review
- Recent advances in enzyme-free and enzyme-mediated single-nucleotide variation assayNational science review · 2024Review
- Elevated incidence of somatic mutations at prevalent genetic sites.Briefings in bioinformatics · 2024Article
- SVhawkeye: an ultra-fast software for user-friendly visualization of targeted structural fragments from BAM files.Frontiers in genetics · 2024Article
- Article
- Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease.Frontiers in cardiovascular medicine · 2024Review
- Tuning tRNAs for improved translation.Frontiers in genetics · 2024Review
- Identification of Pathogenic Missense Mutations in the CHRNA5 Gene: A Computational Approach.Cureus · 2023Article
- Identification of genetic mechanisms underlying lipid metabolism-mediated tumor immunity in head and neck squamous cell carcinoma.BMC medical genomics · 2023Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Genome-wide association studies (GWAS) and whole-exome sequencing (WES) generate massive amounts of genomic variant information, and a major challenge is to identify which variations drive disease or contribute to phenotypic traits. Because the majority of known disease-causing mutations are exonic non-synonymous single nucleotide variations (nsSNVs), most studies focus on whether these nsSNVs affect protein function. Computational studies show that the impact of nsSNVs on protein function reflects sequence homology and structural information and predict the impact through statistical methods, machine learning techniques, or models of protein evolution. Here, we review impact prediction methods and discuss their underlying principles, their advantages and limitations, and how they compare to and complement one another. Finally, we present current applications and future directions for these methods in biological research and medical genetics.
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What OpenQuestion holds
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.