Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.F48C
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INS

NM_000207.3:p.F48C

Associated Papers

Molecular puzzle of insulin: structural assembly pathways and their role in diabetes.

Urbaniak E et al.

Frontiers in Cell and Developmental Biology, 2025

40052150 (PubMed )
Supplement: DataSheet1.pdf

Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.

Ahmed EM et al.

Journal of Personalized Medicine, 2024

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.

Ataie-Ashtiani S et al.

Cells, 2023

Functionally Significant Variants in Genes Associated with Abdominal Obesity: A Review.

Bairqdar A et al.

Journal of Personalized Medicine, 2023

Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.

Cook TW et al.

Biomolecules, 2023

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Wyatt RC et al.

Diabetologia, 2022

35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf

Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population.

Gopi S et al.

Journal of Diabetes and Its Complications, 2021

Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.

Bowman P et al.

Diabetes Care, 2019

INS-gene mutations: from genetics and beta cell biology to clinical disease.

Liu M et al.

Molecular Aspects of Medicine, 2015

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

24411943 (PubMed )
Supplement: mmc1.pdf

[Insulin gene mutations].

Nishi M

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012

Insulin gene mutations and diabetes.

Nishi M et al.

Journal of Diabetes Investigation, 2011

Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth.

Liu M et al.

Trends in Endocrinology and Metabolism: Tem, 2010

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Støy J et al.

Reviews in Endocrine & Metabolic Disorders, 2010

In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.

Rajan S et al.

American Journal of Physiology. Endocrinology and Metabolism, 2010

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.

Park SY et al.

Biochemical and Biophysical Research Communications, 2010

Neonatal diabetes mellitus.

Aguilar-Bryan L et al.

Endocrine Reviews, 2008

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Edghill EL et al.

Diabetes, 2008

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.

Molven A et al.

Diabetes, 2008

Insulin gene mutations as a cause of permanent neonatal diabetes.

Støy J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

[Insulin gene mutation].

Nishi M et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

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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."