Varaico: Literature-Extracted Genetic Variants

Gene:SVEP1
Variant:p.D2702G
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SVEP1

NM_153366.4:p.D2702G

Associated Papers

The potential of deep learning on the discovery of new genes implicated in differences of sex development.

von der Decken I et al.

Computational and Structural Biotechnology Journal, 2026

Deep plasma and tissue proteome profiling of knockout mice reveals pathways associated with Svep1 deficiency.

Maxwell CB et al.

Journal of Molecular and Cellular Cardiology Plus, 2025

EGR1 transcriptionally regulates SVEP1 to promote proliferation and migration in human coronary artery smooth muscle cells.

Tian Q et al.

Molecular Biology Reports, 2024

SVEP1 is an endogenous ligand for the orphan receptor PEAR1.

Elenbaas JS et al.

Nature Communications, 2023

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.

Kuukasjärvi A et al.

European Journal of Human Genetics : Ejhg, 2021

34305140 (PubMed )
Supplement: 41431_2021_939_MOESM2_ESM.xlsx › Filtered_variants

SVEP1 is a human coronary artery disease locus that promotes atherosclerosis.

Jung IH et al.

Science Translational Medicine, 2021

Functional investigation of the coronary artery disease gene SVEP1.

Winkler MJ et al.

Basic Research in Cardiology, 2020

KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Kleyner R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900361 (PubMed )
Supplement: supp_mcs.a001131_Supp_File_4_Tables_1-3.zip › Supplementary_Table_1.xlsx › VAAST_results_38836_recessive.c

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Liu C et al.

Nature Genetics, 2016

Genetics: Polymorphisms in ANGPTL4 link triglycerides with CAD.

Lim GB

Nature Reviews. Cardiology, 2016

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Stitziel NO et al.

The New England Journal of Medicine, 2016

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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."