Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.F48S
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INS

NM_000207.3:p.F48S

Associated Papers

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

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

Arneth B

Endocrine, 2020

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

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

Liu M et al.

Molecular Aspects of Medicine, 2015

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.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

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

Støy J et al.

Reviews in Endocrine & Metabolic Disorders, 2010

SNAP predicts effect of mutations on protein function.

Bromberg Y et al.

Bioinformatics (oxford, England), 2008

[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."