Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.V63Splc
Back to variants list

INS

NM_000207.3:p.V63Splc

Associated Papers

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.

Ding Y et al.

Pediatric Diabetes, 2025

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

Ataie-Ashtiani S et al.

Cells, 2023

Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.

Panova AV et al.

International Journal of Molecular Sciences, 2022

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

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

In celebration of a century with insulin - Update of insulin gene mutations in diabetes.

Støy J et al.

Molecular Metabolism, 2021

Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation.

Panova AV et al.

Stem Cell Research, 2020

Identification of Ala2Thr mutation in insulin gene from a Chinese MODY10 family.

Zhang J et al.

Molecular and Cellular Biochemistry, 2020

Identification of a variant associated with early-onset diabetes in the intron of the insulin gene with exome sequencing.

Matsuno S et al.

Journal of Diabetes Investigation, 2019

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

Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.

Carmody D et al.

Journal of Medical Genetics, 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

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.

Irgens HU et al.

Diabetologia, 2013

Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.

Garin I et al.

Plos One, 2012

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."