Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.V1054M
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INSR

NM_000208.4:p.V1054M

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

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

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

Hosoe J et al.

Diabetes, 2017

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O et al.

Molecular Genetics and Metabolism Reports, 2014

[Leprechaunism: an inherited insulin resistance syndrome caused by the defect of insulin receptor].

Jiang L et al.

Zhonghua Nei Ke Za Zhi, 2006

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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."