Varaico: Literature-Extracted Genetic Variants

Gene:SIM1
Variant:p.P692L
Back to variants list

SIM1

NM_005068.3:p.P692L

Associated Papers

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

Mohammed I et al.

International Journal of Molecular Sciences, 2026

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

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

Ramachandrappa S et al.

The Journal of Clinical Investigation, 2013

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."