Varaico: Literature-Extracted Genetic Variants

Gene:PER3
Variant:p.H416R
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PER3

NM_016831.4:p.H416R

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

Circadian clock gene variants in two Japanese families with familial advanced sleep phase.

Ukai M et al.

Sleep, 2025

39786455 (PubMed )
Supplement: zsae309_suppl_supplementary_tables.xlsx › Suppl_Table_1

Human PERIOD3 variants lead to winter depression-like behaviours via glucocorticoid signalling.

Gao Q et al.

Nature Metabolism, 2024

Autoimmune hypothyroidism GWAS reveals independent autoimmune and thyroid-specific contributions and an inverse relation with cancer risk.

Reeve M et al.

Research Square, 2024

Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders.

Plavc L et al.

Chronobiology International, 2024

Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.

Bar O et al.

International Journal of Molecular Sciences, 2024

38256266 (PubMed )
Supplement: ijms-25-01192-s001.zip › ijms-2816629-supplementary.xlsx › Table_S5

The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria.

Chen H et al.

Journal of Molecular Medicine (berlin, Germany), 2023

The impact of Mendelian sleep and circadian genetic variants in a population setting.

Weedon MN et al.

Plos Genetics, 2022

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Rodriguez-Flores JL et al.

Npj Genomic Medicine, 2022

A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Cochran M et al.

Molecular Genetics & Genomic Medicine, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

The molecular genetics of human sleep.

Zhang L et al.

The European Journal of Neuroscience, 2020

Protein-protein interactions underlying the behavioral and psychological symptoms of dementia (BPSD) and Alzheimer's disease.

Mao Y et al.

Plos One, 2020

31951614 (PubMed )
Supplement: pone.0226021.s001.xlsx › Sheet2

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

Phenotyping of PER3 variants reveals widespread effects on circadian preference, sleep regulation, and health.

Archer SN et al.

Sleep Medicine Reviews, 2018

Circadian Clock Model Supports Molecular Link Between PER3 and Human Anxiety.

Liberman AR et al.

Scientific Reports, 2017

A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.

Zhang L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

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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."