Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.N252K
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PNPLA2

NM_020376.4:p.N252K

Associated Papers

Glucagon Receptor Deficiency Causes Early-Onset Hepatic Steatosis.

Cacciottolo TM et al.

Diabetes, 2025

40854221 (PubMed )
Supplement: db250209_supp.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__

The contribution of genetics and epigenetics to MAFLD susceptibility.

Moretti V et al.

Hepatology International, 2024

Multiomics study of nonalcoholic fatty liver disease.

Sveinbjornsson G et al.

Nature Genetics, 2022

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

DNA Sequence Variation in ACVR1C Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes.

Emdin CA et al.

Diabetes, 2019

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P3C

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.

Coassin S et al.

Plos Genetics, 2010

The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes.

Schoenborn V et al.

Diabetes, 2006

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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."