Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.L647V
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IRS2

NM_003749.3:p.L647V

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Structural Consequences of IRS-2 nsSNPs and Implication for Insulin Receptor Substrate-2 Protein Stability.

Zia A et al.

Biochemical Genetics, 2023

Insulin receptor substrate-2 is expressed in kidney epithelium and up-regulated in diabetic nephropathy.

Hookham MB et al.

The Febs Journal, 2013

Polymorphisms of the insulin receptor and the insulin receptor substrates genes in polycystic ovary syndrome: a Mendelian randomization meta-analysis.

Ioannidis A et al.

Molecular Genetics and Metabolism, 2010

Polymorphisms of the insulin receptor substrate-2 in patients with type 2 diabetes.

D'Alfonso R et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin resistance of women with polycystic ovary syndrome.

El Mkadem SA et al.

Diabetes, 2001

New amino acid substitutions in the IRS-2 gene in Finnish and Chinese subjects with late-onset type 2 diabetes.

Wang H et al.

Diabetes, 2001

Search for variants of the gene-promoter and the potential phosphotyrosine encoding sequence of the insulin receptor substrate-2 gene: evaluation of their relation with alterations in insulin secretion and insulin sensitivity.

Almind K et al.

Diabetologia, 1999

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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."