Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN1
Variant:p.I291V
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ERLIN1

NM_006459.4:p.I291V

Associated Papers

ERLIN1: A central regulator of protein quality control, lipid homeostasis, and cellular signaling at the endoplasmic reticulum.

Cho H et al.

Cellular Signalling, 2026

Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions.

Wingo AP et al.

Nature Genetics, 2025

Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach.

Huang HYR et al.

Jhep Reports : Innovation in Hepatology, 2025

39687601 (PubMed )
Supplement: mmc4.pdf

Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.

Wang JJ et al.

Frontiers in Physiology, 2025

40166716 (PubMed )
Supplement: Table1.xlsx › Table_S1__

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

Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.

Sookoian S et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024

The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD.

Rendel MD et al.

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

Multiomics study of nonalcoholic fatty liver disease.

Sveinbjornsson G et al.

Nature Genetics, 2022

A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

Vujkovic M et al.

Nature Genetics, 2022

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 › T13

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

Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Edelman D et al.

Molecular Genetics & Genomic Medicine, 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
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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."