Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L30M
Back to variants list

INS

NM_000207.3:p.L30M

Associated Papers

A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.

Tong Y et al.

Embo Molecular Medicine, 2026

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

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

Ataie-Ashtiani S et al.

Cells, 2023

Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.

Ngoc CTB et al.

Frontiers in Endocrinology, 2022

Insulin gene mutations and posttranslational and translocation defects: associations with diabetes.

Arneth B

Endocrine, 2020

Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.

Piccini B et al.

European Journal of Medical Genetics, 2016

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

Liu M et al.

Molecular Aspects of Medicine, 2015

Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young.

Dusatkova L et al.

European Journal of Medical Genetics, 2015

[Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history].

Di Benedetto M et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2013

[Insulin gene mutations].

Nishi M

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.

Vaxillaire M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 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

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.

Meur G et al.

Diabetes, 2010

[Insulin gene mutation].

Nishi M et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

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."