Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.Y1361C
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INSR

NM_000208.4:p.Y1361C

Associated Papers

Proteolethargy is a pathogenic mechanism in chronic disease.

Dall'Agnese A et al.

Cell, 2025

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.

Mahmud Z et al.

Biomed Research International, 2016

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

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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."