Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L105P
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INS

NM_000207.3:p.L105P

Associated Papers

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

Ataie-Ashtiani S et al.

Cells, 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

Novel Pathogenic De Novo INS p.T97P Variant Presenting With Severe Neonatal DKA.

Lal RA et al.

Endocrinology, 2022

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

Støy J et al.

Molecular Metabolism, 2021

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.

Ortolani F et al.

Acta Diabetologica, 2016

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
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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."