Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.P322S
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SH2B1

NM_001387430.1:p.P322S

Associated Papers

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

Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance.

Flores A et al.

Diabetes, 2019

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."