Varaico: Literature-Extracted Genetic Variants

Gene:GPAM
Variant:p.I43V
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GPAM

NM_001244949.2:p.I43V

Associated Papers

Genetic Predisposition to MASLD: Potential for Therapeutic Management.

Karapanagiotidi F et al.

International Journal of Molecular Sciences, 2026

Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.

Vujkovic M et al.

Medrxiv : the Preprint Server for Health Sciences, 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

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 contribution of genetics and epigenetics to MAFLD susceptibility.

Moretti V et al.

Hepatology International, 2024

Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.

Ghouse J et al.

Nature Genetics, 2024

38632349 (PubMed )
Supplement: 41588_2024_1720_MOESM4_ESM.xlsx › S16

Gene Variants Implicated in Steatotic Liver Disease: Opportunities for Diagnostics and Therapeutics.

Huang G et al.

Biomedicines, 2023

Therapeutic opportunities for the treatment of NASH with genetically validated targets.

Lindén D et al.

Journal of Hepatology, 2023

Multiomics study of nonalcoholic fatty liver disease.

Sveinbjornsson G et al.

Nature Genetics, 2022

A minority of somatically mutated genes in pre-existing fatty liver disease have prognostic importance in the development of NAFLD.

Mann JP et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 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

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

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

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

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-A0ER-01A.domain
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