Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.P90H
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SH2B1

NM_001387430.1:p.P90H

Associated Papers

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Faccioli N et al.

Obesity (silver Spring, Md.), 2026

Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.

Dosda S et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38779716 (PubMed )
Supplement: supplement_1.pdf

The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.

Melendez-Montañez JM et al.

Genes, 2024

38674329 (PubMed )
Supplement: genes-15-00394-s001.zip › Table_S1.pdf

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Role of the Beta and Gamma Isoforms of the Adapter Protein SH2B1 in Regulating Energy Balance.

Argetsinger LS et al.

Endocrinology, 2023

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

Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression.

Jiang L et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2018

High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children.

Foucan L et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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

Giuranna J et al.

Obesity Facts, 2018

Growth hormone signaling pathways.

Carter-Su C et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2016

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1.

Pearce LR et al.

Endocrinology, 2014

Human SH2B1 mutations are associated with maladaptive behaviors and obesity.

Doche ME et al.

The Journal of Clinical Investigation, 2012

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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."