Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.T484A
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SH2B1

NM_001387430.1:p.T484A

Associated Papers

Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

Abner E et al.

Nature Communications, 2025

41062462 (PubMed )
Supplement: 41467_2025_64006_MOESM6_ESM.xlsx › Figure1a

A case-control study on SH2B1 gene variants in obesity and obstructive sleep apnea severity: genetic risk factors in the leptin signaling pathway.

Kuccukturk S et al.

Expert Review of Endocrinology & Metabolism, 2025

Putative protective genomic variation in the Lithuanian population.

Žukauskaitė G et al.

Genetics and Molecular Biology, 2024

SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.

da Fonseca ACP et al.

Eating and Weight Disorders : Ewd, 2022

The Effect of SH2B1 Variants on Expression of Leptin- and Insulin-Induced Pathways in Murine Hypothalamus.

Giuranna J et al.

Obesity Facts, 2018

Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Huang H et al.

Nature, 2017

28658209 (PubMed )
Supplement: NIHMS72714-supplement-Supplementary_Table_1.xlsx › annotation__summary

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

Ng MCY et al.

Plos Genetics, 2017

Evidence for Association between SH2B1 Gene Variants and Glycated Hemoglobin in Nondiabetic European American Young Adults: The Add Health Study.

Lange LA et al.

Annals of Human Genetics, 2016

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

Lu Y et al.

Nature Communications, 2016

Genetic and structural variation in the SH2B1 gene in the Belgian population.

Aerts E et al.

Molecular Genetics and Metabolism, 2015

Genetic studies of body mass index yield new insights for obesity biology.

Locke AE et al.

Nature, 2015

GWAS-identified common variants for obesity are not associated with the risk of developing colorectal cancer.

Sainz J et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf

Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese children and adolescents undergoing a 1-year lifestyle intervention.

Volckmar AL et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2013

Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Duan J et al.

Scientific Reports, 2013

23422947 (PubMed )
Supplement: srep01318-s2.xls › S7

Next-generation sequence analysis of genes associated with obesity and nonalcoholic fatty liver disease-related cirrhosis in extreme obesity.

Gerhard GS et al.

Human Heredity, 2013

Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.

Volckmar AL et al.

Bmc Medical Genomics, 2012

MC4R variant is associated with BMI but not response to resistance training in young females.

Orkunoglu-Suer FE et al.

Obesity (silver Spring, Md.), 2011

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Speliotes EK et al.

Nature Genetics, 2010

20935630 (PubMed )
Supplement: NIHMS237282-supplement-1.pdf

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.

Thorleifsson G et al.

Nature Genetics, 2009

Association of genetic variants of MAOA and SH2B1 with bone mineral density in community-dwelling Japanese women.

Yamada Y et al.

Molecular Medicine Reports, 0

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