Varaico: Literature-Extracted Genetic Variants

Gene:SBNO1
Variant:p.S729N
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SBNO1

NM_001167856.3:p.S729N

Associated Papers

Examining patient-specific responses to PARP inhibitors in a novel, human induced pluripotent stem cell-based model of breast cancer.

Weddle CJ et al.

Npj Precision Oncology, 2025

40000798 (PubMed )
Supplement: 41698_2025_837_MOESM3_ESM.xlsx › BC1

The landscape of RNA binding proteins in mammalian spermatogenesis.

Li Y et al.

Science (new York, N.y.), 2024

39208083 (PubMed )
Supplement: science.adj8172_tables_s1_to_s16.zip › science.adj8172_table_s14.xlsx › Candidate_Hom_DNS_LOF

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

37762110 (PubMed )
Supplement: ijms-24-13809-s001.zip › Table_S2.xlsx › Foglio1

Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

Styrkarsdottir U et al.

Nature Genetics, 2018

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Mahajan A et al.

Nature Genetics, 2018

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Ferreira MA et al.

Nature Genetics, 2017

29083406 (PubMed )
Supplement: NIHMS74439-supplement-Supplementary_tables.xlsx › ST12

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Grassmann F et al.

Genome Medicine, 2017

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Surendran P et al.

Nature Genetics, 2016

27618447 (PubMed )
Supplement: NIHMS69533-supplement-Supplementary_Tables.xlsx › Supplementary_Table_05

Detection and interpretation of shared genetic influences on 42 human traits.

Pickrell JK et al.

Nature Genetics, 2016

27182965 (PubMed )
Supplement: NIHMS780506-supplement-5.pdf

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A03R-01A.domain
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."