Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.C28F
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POMC

NM_000939.4:p.C28F

Associated Papers

Functional integrity of the SEL1L-HRD1 complex is critical for endoplasmic reticulum-associated degradation and organismal viability.

Zhang X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2026

41642983 (PubMed )
Supplement: pnas.2517927123.sapp.pdf

Structural basis and pathological implications of the dimeric OS9-SEL1L-HRD1 ERAD Core Complex.

Lin LL et al.

Nature Communications, 2026

Coordinated Role of Autophagy and ERAD in Maintaining Neuroendocrine Function by Preventing Prohormone Aggregation.

Pan X et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

PINK1 controls RTN3L-mediated ER autophagy by regulating peripheral tubule junctions.

Chidambaram R et al.

The Journal of Cell Biology, 2024

RTN3L and CALCOCO1 function in parallel to maintain proteostasis in the endoplasmic reticulum.

Kumar K et al.

Autophagy, 2024

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

Le Collen L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP et al.

Expert Review of Endocrinology & Metabolism, 2023

36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1

Unraveling the roles of endoplasmic reticulum-associated degradation in metabolic disorders.

Luo H et al.

Frontiers in Endocrinology, 2023

Endoplasmic reticulum tubules limit the size of misfolded protein condensates.

Parashar S et al.

Elife, 2021

Impact of Genetic Variations and Epigenetic Mechanisms on the Risk of Obesity.

Chiurazzi M et al.

International Journal of Molecular Sciences, 2020

Protein quality control through endoplasmic reticulum-associated degradation maintains haematopoietic stem cell identity and niche interactions.

Xu L et al.

Nature Cell Biology, 2020

Cells Deploy a Two-Pronged Strategy to Rectify Misfolded Proinsulin Aggregates.

Cunningham CN et al.

Molecular Cell, 2019

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf

Hypothalamic ER-associated degradation regulates POMC maturation, feeding, and age-associated obesity.

Kim GH et al.

The Journal of Clinical Investigation, 2018

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.

Creemers JW et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

[Genetic variations in energy balance regulation].

Pankov IuA

Biomeditsinskaia Khimiia, 0

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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."