Varaico: Literature-Extracted Genetic Variants

Gene:SIM1
Variant:p.G715V
Back to variants list

SIM1

NM_005068.3:p.G715V

Associated Papers

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

Mohammed I et al.

International Journal of Molecular Sciences, 2026

Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach.

Mainieri F et al.

European Journal of Pediatrics, 2023

The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.

Juriaans AF et al.

Endocrine Reviews, 2022

The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

Kolonko-Adamska M et al.

International Journal of Molecular Sciences, 2021

Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation.

Gonsalves R et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2020

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.

Coban MA et al.

Biomolecules, 2020

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."