Varaico: Literature-Extracted Genetic Variants

Gene:SIM1
Variant:p.R171H
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SIM1

NM_005068.3:p.R171H

Associated Papers

Multimodal bHLH-PAS DNA binding controls specificity and drives obesity.

Bersten DC et al.

Nucleic Acids Research, 2026

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

Mohammed I et al.

International Journal of Molecular Sciences, 2026

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.

Blackburn PR et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.

Stanikova D et al.

Plos One, 2017

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.

Montagne L et al.

Obesity (silver Spring, Md.), 2014

Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.

Sullivan AE et al.

The Biochemical Journal, 2014

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

Ramachandrappa S et al.

The Journal of Clinical Investigation, 2013

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