Varaico: Literature-Extracted Genetic Variants

Gene:SIM1
Variant:p.I128T
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SIM1

NM_005068.3:p.I128T

Associated Papers

Novel SIM1 Variants Expanding the Spectrum of SIM1-Related Obesity.

Mohammed I et al.

International Journal of Molecular Sciences, 2026

Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass - a randomized clinical trial.

Loid P et al.

Surgery for Obesity and Related Diseases : Official Journal of the American Society for Bariatric Surgery, 2025

Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.

Al-Humadi AW et al.

Journal of Clinical Medicine, 2023

37835041 (PubMed )
Supplement: jcm-12-06396-s001.zip › jcm-2584407-supplementary.pdf

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Turcot V et al.

Nature Genetics, 2018

29273807 (PubMed )
Supplement: NIHMS920811-supplement-2.xlsx › S22._MonogenicSyndromic_

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.

Cheon CK

Annals of Pediatric Endocrinology & Metabolism, 2016

Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.

Zegers D et al.

International Journal of Obesity (2005), 2014

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.

Bonnefond A et al.

The Journal of Clinical Investigation, 2013

Rare variants in single-minded 1 (SIM1) are associated with severe obesity.

Ramachandrappa S et al.

The Journal of Clinical Investigation, 2013

Studies of the SIM1 gene in relation to human obesity and obesity-related traits.

Hung CC et al.

International Journal of Obesity (2005), 2007

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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."