Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.I146M
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INSR

NM_000208.4:p.I146M

Associated Papers

Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: a single centre experience.

Improda N et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

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

Aslanzadeh V et al.

Nature Communications, 2025

Insulin receptor variants: Extending the traditional Mendelian spectrum.

Collin-Chavagnac D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.

Bastaki F et al.

Hormone Research in Paediatrics, 2017

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L et al.

Human Mutation, 2010

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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."