Varaico: Literature-Extracted Genetic Variants

Gene:NPSR1
Variant:p.N107I
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NPSR1

NM_207172.2:p.N107I

Associated Papers

An integrative neurogenomics workflow for precision medicine in neurodegenerative disorders.

Perezcano C et al.

Frontiers in Dementia, 2026

41717632 (PubMed )
Supplement: Data_Sheet_1.pdf

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Impact of NPSR1 gene variation on the neural correlates of phasic and sustained fear in spider phobia-an imaging genetics and independent replication approach.

Leehr EJ et al.

Social Cognitive and Affective Neuroscience, 2024

Neuropeptide S Receptor 1 variant (I107N) regulates behavioral characteristics and NPS effect in mice in a sex-dependent manner.

Song C et al.

Neuropharmacology, 2024

Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.

Tan IL et al.

Cell Reports, 2023

37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Coding

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2023

36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Role of the Neuropeptide S System in Emotionality, Stress Responsiveness and Addiction-Like Behaviours in Rodents: Relevance to Stress-Related Disorders.

Tobinski AM et al.

Pharmaceuticals (basel, Switzerland), 2021

Genetics of human startle reactivity: A systematic review to acquire targets for an anxiety endophenotype.

Tomasi J et al.

The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry, 2021

Association of DRD4 exon III and 5-HTTLPR VNTR genetic polymorphisms with psychiatric symptoms in hemodialysis patients.

Alshogran OY et al.

Plos One, 2021

A Novel Mutation in the IL6R Gene Identified in a Family with Asthma Patients.

Trueb B et al.

Genetic Testing and Molecular Biomarkers, 2020

The effect of polymorphisms in startle-related genes on anxiety symptom severity.

Tomasi J et al.

Journal of Psychiatric Research, 2020

Genetic Determinants of Gating Functions: Do We Get Closer to Understanding Schizophrenia Etiopathogenesis?

Rovný R et al.

Frontiers in Psychiatry, 2020

33324248 (PubMed )
Supplement: Data_Sheet_1.docx

Neuropeptide S receptor gene Asn107 polymorphism in obese male individuals in Pakistan.

Ahmad A et al.

Plos One, 2020

Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation.

Xing L et al.

Science Translational Medicine, 2019

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S002

Investigating the Contribution of NPSR1, IL-6 and BDNF Polymorphisms to Depressive and Anxiety Symptoms in Hemodialysis Patients.

Alshogran OY et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2019

Association of NPSR1 rs324981 polymorphism and treatment response to antidepressants in Chinese Han population with generalized anxiety disorder.

He Q et al.

Biochemical and Biophysical Research Communications, 2018

Sex-specific association between functional neuropeptide S receptor gene (NPSR1) variants and cortisol and central stress responses.

Streit F et al.

Psychoneuroendocrinology, 2017

Candidate genes in panic disorder: meta-analyses of 23 common variants in major anxiogenic pathways.

Howe AS et al.

Molecular Psychiatry, 2016

Neuropeptide S receptor gene variation and neural correlates of cognitive emotion regulation.

Guhn A et al.

Social Cognitive and Affective Neuroscience, 2015

Neuropeptide S receptor gene variation modulates anterior cingulate cortex Glx levels during CCK-4 induced panic.

Ruland T et al.

European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology, 2015

Further evidence for the association of the NPSR1 gene A/T polymorphism (Asn107Ile) with impulsivity and hyperactivity.

Laas K et al.

Journal of Psychopharmacology (oxford, England), 2015

Modulation of prefrontal functioning in attention systems by NPSR1 gene variation.

Neufang S et al.

Neuroimage, 2015

Genetic basis of a cognitive complexity metric.

Hansell NK et al.

Plos One, 2015

25860228 (PubMed )
Supplement: pone.0123886.s014.pdf

NPSR1 polymorphisms influence recurrent abdominal pain in children: a population-based study.

Henström M et al.

Neurogastroenterology and Motility, 2014

Genetic association of objective sleep phenotypes with a functional polymorphism in the neuropeptide S receptor gene.

Spada J et al.

Plos One, 2014

The functional coding variant Asn107Ile of the neuropeptide S receptor gene (NPSR1) influences age at onset of obsessive-compulsive disorder.

Lennertz L et al.

The International Journal of Neuropsychopharmacology, 2013

Neuropeptide S receptor gene is associated with cortisol responses to social stress in humans.

Kumsta R et al.

Biological Psychology, 2013

Interaction between retinoid acid receptor-related orphan receptor alpha (RORA) and neuropeptide S receptor 1 (NPSR1) in asthma.

Acevedo N et al.

Plos One, 2013

Contextual fear conditioning in virtual reality is affected by 5HTTLPR and NPSR1 polymorphisms: effects on fear-potentiated startle.

Glotzbach-Schoon E et al.

Frontiers in Behavioral Neuroscience, 2013

The functional coding variant Asn107Ile of the neuropeptide S receptor gene (NPSR1) is associated with schizophrenia and modulates verbal memory and the acoustic startle response.

Lennertz L et al.

The International Journal of Neuropsychopharmacology, 2012

Potential association of DCBLD2 polymorphisms with fall rates of FEV(1) by aspirin provocation in Korean asthmatics.

Park TJ et al.

Journal of Korean Medical Science, 2012

Advances in molecular genetics of panic disorder.

Maron E et al.

Molecular Psychiatry, 2010

Molecular modeling studies on the human neuropeptide S receptor and its antagonists.

Dal Ben D et al.

Chemmedchem, 2010

Analysis of neuropeptide S receptor gene (NPSR1) polymorphism in rheumatoid arthritis.

D'Amato M et al.

Plos One, 2010

Neuropeptide S receptor induces neuropeptide expression and associates with intermediate phenotypes of functional gastrointestinal disorders.

Camilleri M et al.

Gastroenterology, 2010

Importance of extracellular loop one of the neuropeptide S receptor for biogenesis and function.

Clark SD et al.

Peptides, 2010

Lack of association between neuropeptide S receptor 1 gene (NPSR1) and eczema in five European populations.

Ekelund E et al.

Acta Dermato-venereologica, 2009

Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease.

D'Amato M et al.

Gastroenterology, 2007

Impact of GPCRs in clinical medicine: monogenic diseases, genetic variants and drug targets.

Insel PA et al.

Biochimica Et Biophysica Acta, 2007

Expression and function of NPSR1/GPRA in the lung before and after induction of asthma-like disease.

Allen IC et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2006

Structure-function relationships in the neuropeptide S receptor: molecular consequences of the asthma-associated mutation N107I.

Bernier V et al.

The Journal of Biological Chemistry, 2006

Pharmacological characterization of human and murine neuropeptide s receptor variants.

Reinscheid RK et al.

The Journal of Pharmacology and Experimental Therapeutics, 2005

Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.

Tang CM et al.

Expert Opinion on Therapeutic Targets, 2005

Characterization of GPRA, a novel G protein-coupled receptor related to asthma.

Vendelin J et al.

American Journal of Respiratory Cell and Molecular Biology, 2005

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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."