Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.A119V
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INSR

NM_000208.4:p.A119V

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

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

Aslanzadeh V et al.

Nature Communications, 2025

The ACE inhibitor captopril inhibits ACN-1 to control dauer formation and aging.

Egan BM et al.

Development (cambridge, England), 2024

The ACE-inhibitor drug captopril inhibits ACN-1 to control dauer formation and aging.

Egan BM et al.

Biorxiv : the Preprint Server for Biology, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL17

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

Hosoe J et al.

Diabetes, 2017

A novel class of somatic mutations in blood detected preferentially in CD8+ cells.

Valori M et al.

Clinical Immunology (orlando, Fla.), 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

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Grasso V et al.

Acta Diabetologica, 2013

Resequencing analysis of the candidate tyrosine kinase and RAS pathway gene families in multiple myeloma.

Hucthagowder V et al.

Cancer Genetics, 2012

Genotype-phenotype correlation in inherited severe insulin resistance.

Longo N et al.

Human Molecular Genetics, 2002

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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."