Varaico: Literature-Extracted Genetic Variants

Gene:CERS2
Variant:p.E115A
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CERS2

NM_022075.5:p.E115A

Associated Papers

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1

Reduced circulating sphingolipids and CERS2 activity are linked to T2D risk and impaired insulin secretion.

Khan SR et al.

Science Advances, 2025

An E115A Missense Variant in CERS2 Is Associated With Increased Sleeping Energy Expenditure and Hepatic Insulin Resistance in American Indians.

Heinitz S et al.

Diabetes, 2024

Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.

Stanzick KJ et al.

Nature Communications, 2021

Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study.

Nicholson RJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

Wuttke M et al.

Nature Genetics, 2019

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

Graham SE et al.

Nature Communications, 2019

31015462 (PubMed )
Supplement: 41467_2019_9861_MOESM1_ESM.pdf

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Morris AP et al.

Nature Communications, 2019

Ceramide Synthase Schlank Is a Transcriptional Regulator Adapting Gene Expression to Energy Requirements.

Sociale M et al.

Cell Reports, 2018

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.

Chen J et al.

Plos One, 2016

27100181 (PubMed )
Supplement: pone.0153933.s001.xlsx › WTS-adenoma_samples-First_Batch

Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

John SE et al.

Genomics Data, 2015

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-A2-A0CT-01A.domain

New loci associated with kidney function and chronic kidney disease.

Köttgen A et al.

Nature Genetics, 2010

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