Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.C286Y
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INSR

NM_000208.4:p.C286Y

Associated Papers

Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistance.

Aslanzadeh V et al.

Nature Communications, 2025

Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene.

You W et al.

Frontiers in Endocrinology, 2022

Two novel mutations identified in familial cases with Donohue syndrome.

Falik Zaccai TC et al.

Molecular Genetics & Genomic Medicine, 2014

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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."