Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.P220L
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INSR

NM_000208.4:p.P220L

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

Divergent genes in gerbils: prevalence, relation to GC-biased substitution, and phenotypic relevance.

Dai Y et al.

Bmc Evolutionary Biology, 2020

Two novel mutations identified in familial cases with Donohue syndrome.

Falik Zaccai TC et al.

Molecular Genetics & Genomic Medicine, 2014

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

Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene.

Ahmad S et al.

The British Journal of Dermatology, 2013

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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."