Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.T546A
Back to variants list

SH2B1

NM_001387430.1:p.T546A

Associated Papers

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

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

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.

Philippe J et al.

International Journal of Obesity (2005), 2015

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

Pearce LR et al.

Endocrinology, 2014

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."