Varaico: Literature-Extracted Genetic Variants

Gene:HCRTR1
Variant:p.I408V
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HCRTR1

NM_001525.3:p.I408V

Associated Papers

Increased Expression of Orexin-A in Patients Affected by Polycystic Kidney Disease.

Nigro E et al.

International Journal of Molecular Sciences, 2024

38892431 (PubMed )
Supplement: ijms-25-06243-s001.zip › ijms-2979393-supplementary.pdf

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Unraveling the function and structure impact of deleterious missense SNPs in the human OX1R receptor by computational analysis.

Farajzadeh-Dehkordi M et al.

Scientific Reports, 2024

38191899 (PubMed )
Supplement: 41598_2023_49809_MOESM5_ESM.xlsx › Table_S2

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

A variant in orexin receptor-2 is associated with self-reported daytime sleepiness in the Japanese population.

Miyagawa T et al.

Journal of Human Genetics, 2022

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

Assessing established BMI variants for a role in nighttime eating behavior in robustly phenotyped Southwestern American Indians.

Köroğlu Ç et al.

European Journal of Clinical Nutrition, 2020

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

Association of orexin/hypocretin receptor gene (HCRTR1) with reward sensitivity, and interaction with gender.

Pulver A et al.

Brain Research, 2020

Orexin/hypocretin receptor gene (HCRTR1) variation is associated with aggressive behaviour.

Harro J et al.

Neuropharmacology, 2019

Orexin in the anxiety spectrum: association of a HCRTR1 polymorphism with panic disorder/agoraphobia, CBT treatment response and fear-related intermediate phenotypes.

Gottschalk MG et al.

Translational Psychiatry, 2019

The preliminary investigation of orexigenic hormone gene polymorphisms on posttraumatic stress disorder symptoms.

Li G et al.

Psychoneuroendocrinology, 2019

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

The New *G29A and G1222A of HCRTR1, 5-HTTLPR of SLC6A4 Polymorphisms and Hypocretin-1, Serotonin Concentrations in Migraine Patients.

Kowalska M et al.

Frontiers in Molecular Neuroscience, 2018

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Barclay SF et al.

Respiratory Physiology & Neurobiology, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1

OX1 and OX2 orexin/hypocretin receptor pharmacogenetics.

Thompson MD et al.

Frontiers in Neuroscience, 2014

Gender-stratified gene and gene-treatment interactions in smoking cessation.

Lee W et al.

The Pharmacogenomics Journal, 2012

21808284 (PubMed )
Supplement: NIHMS305090-supplement-3.pdf

Association between major mood disorders and the hypocretin receptor 1 gene.

Rainero I et al.

Journal of Affective Disorders, 2011

Evidence for an association between migraine and the hypocretin receptor 1 gene.

Rainero I et al.

The Journal of Headache and Pain, 2011

Panic disorder is associated with the Val308Iso polymorphism in the hypocretin receptor gene.

Annerbrink K et al.

Psychiatric Genetics, 2011

The orexin 1 receptor (HCRTR1) gene as a susceptibility gene contributing to polydipsia-hyponatremia in schizophrenia.

Fukunaka Y et al.

Neuromolecular Medicine, 2007

Association of an orexin 1 receptor 408Val variant with polydipsia-hyponatremia in schizophrenic subjects.

Meerabux J et al.

Biological Psychiatry, 2005

A polymorphism of the hypocretin receptor 2 gene is associated with cluster headache.

Rainero I et al.

Neurology, 2004

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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."