Varaico: Literature-Extracted Genetic Variants

Gene:TM6SF2
Variant:p.R138W
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TM6SF2

NM_001001524.3:p.R138W

Associated Papers

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: mmc1.pdf

Allele-specific variation at APOE increases nonalcoholic fatty liver disease and obesity but decreases risk of Alzheimer's disease and myocardial infarction.

Palmer ND et al.

Human Molecular Genetics, 2021

Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

Kim HI et al.

American Journal of Human Genetics, 2020

Identification of deleterious rare variants in MTTP, PNPLA3, and TM6SF2 in Japanese males and association studies with NAFLD.

Boonvisut S et al.

Lipids in Health and Disease, 2017

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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."