Varaico: Literature-Extracted Genetic Variants

Gene:RREB1
Variant:p.D1171N
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RREB1

NM_001003699.4:p.D1171N

Associated Papers

First Report of a Novel Pathogenic Variant in the RREB1 Gene Associated With Obesity and Metabolic Syndrome.

Mammadova N et al.

Clinical Genetics, 2026

The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies.

Yang HC et al.

Nature, 2025

41092961 (PubMed )
Supplement: 41586_2025_9680_MOESM4_ESM.zip › Supplemental_Data_19.xlsx › Supplemental_Data_19

Common genetic variation influencing the human lung imaging phenotypes.

Zhu M et al.

Nature Communications, 2025

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST5_GWAS_Loci_BBJ_NCGG

Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.

Park YJ et al.

Lipids in Health and Disease, 2024

39198834 (PubMed )
Supplement: 12944_2024_2248_MOESM1_ESM.xlsx › Table_S1

Loss of RREB1 reduces adipogenesis and improves insulin sensitivity in mouse and human adipocytes.

Yu GZ et al.

Biorxiv : the Preprint Server for Biology, 2024

Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes.

Chen Z et al.

Nature Communications, 2024

Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits.

Chen CY et al.

Cell Genomics, 2023

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.

Choi J et al.

Science Advances, 2023

37556544 (PubMed )
Supplement: sciadv.adg6319_tables_s5_s6_s9_and_s11.zip › Table_S11.xlsx › Table_S11

Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression.

Mattis KK et al.

Diabetologia, 2023

Computational and Experimental Analysis of Genetic Variants.

Prokop JW et al.

Comprehensive Physiology, 2022

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Khoruddin NA et al.

Scientific Reports, 2021

The trans-ancestral genomic architecture of glycemic traits.

Chen J et al.

Nature Genetics, 2021

34059833 (PubMed )
Supplement: EMS120610-supplement-Supplementary_Tables.xlsx › S14-88signalsPPAg0.9

Genome-wide identification of m6A-associated functional SNPs as potential functional variants for thyroid cancer.

Ruan X et al.

American Journal of Cancer Research, 2021

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Vujkovic M et al.

Nature Genetics, 2020

32541925 (PubMed )
Supplement: NIHMS1589535-supplement-1589535_Supp_Tab1-26.xlsx › T14

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M et al.

Nature Communications, 2019

31562340 (PubMed )
Supplement: 41467_2019_12276_MOESM9_ESM.xlsx › Supplementary_Data_7

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Flannick J et al.

Nature, 2019

31118516 (PubMed )
Supplement: 41586_2019_1231_MOESM1_ESM.pdf

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

Mahajan A et al.

Nature Genetics, 2018

Genome-wide identification of m6A-associated SNPs as potential functional variants for bone mineral density.

Mo XB et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2018

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

Mahajan A et al.

Nature Genetics, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

The genetic architecture of type 2 diabetes.

Fuchsberger C et al.

Nature, 2016

The ras responsive transcription factor RREB1 is a novel candidate gene for type 2 diabetes associated end-stage kidney disease.

Bonomo JA et al.

Human Molecular Genetics, 2014

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Balbás-Martínez C et al.

Nature Genetics, 2013

24121791 (PubMed )
Supplement: NIHMS525200-supplement-2.xls › Relevant_mut_discovery_screen
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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."