Varaico: Literature-Extracted Genetic Variants

Gene:FTO
Variant:p.R322Q
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FTO

NM_001080432.3:p.R322Q

Associated Papers

FTO-mediated m6A demethylation regulates IGFBP3 expression and AKT activation through IMP3-dependent P-body re-localisation in lung cancer.

Wang H et al.

Clinical and Translational Medicine, 2025

m6A modification enhances the stability of CDC25A promotes tumorigenicity of esophagogastric junction adenocarcinoma via cell cycle.

Pan Y et al.

International Journal of Biological Sciences, 2024

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS et al.

Genes, 2023

36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf

In silico profiling of nonsynonymous SNPs of fat mass and obesity-associated gene: possible impacts on the treatment of non-alcoholic fatty liver disease.

Patnaik D et al.

Lipids in Health and Disease, 2023

Case report: A novel biallelic FTO variant causing multisystem anomalies with severe epilepsy, widening the spectrum of FTO syndrome.

Mayman N et al.

Sage Open Medical Case Reports, 2023

Analysis of coding variants in the human FTO gene from the gnomAD database.

Souza Junior MLF et al.

Plos One, 2022

Comprehensive mutations analyses of FTO (fat mass and obesity-associated gene) and their effects on FTO's substrate binding implicated in obesity.

Kumar R et al.

Frontiers in Nutrition, 2022

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Li N et al.

Breast Cancer Research : Bcr, 2018

29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3

FTO variant associated with malformation syndrome.

Rohena L et al.

American Journal of Medical Genetics. Part A, 2016

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

Daoud H et al.

Journal of Medical Genetics, 2016

A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution.

Davies RW et al.

European Journal of Human Genetics : Ejhg, 2013

Single nucleotide polymorphisms in the FTO gene and their association with growth and meat quality traits in rabbits.

Zhang GW et al.

Gene, 2013

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

Zheng Z et al.

Plos One, 2013

From GWAS to biology: lessons from FTO.

Tung YC et al.

Annals of the New York Academy of Sciences, 2011

FTO Biology and Obesity: Why Do a Billion of Us Weigh 3 kg More?

Cheung MK et al.

Frontiers in Endocrinology, 2011

[Association of the tagging single nucleotide polymorphisms in transforming growth factor beta-1 gene with hypertension in the Han nationality population in Xinjiang].

Yang JF et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2010

Prevalence of loss-of-function FTO mutations in lean and obese individuals.

Meyre D et al.

Diabetes, 2010

Mapping and significance of the mRNA methylome.

Sibbritt T et al.

Wiley Interdisciplinary Reviews. Rna, 0

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