Varaico: Literature-Extracted Genetic Variants

Gene:NPAS3
Variant:p.V304I
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NPAS3

NM_001164749.2:p.V304I

Associated Papers

The role of bHLH-PAS transcription factors in endoplasmic reticulum stress.

Krauze I et al.

Frontiers in Molecular Biosciences, 2025

Protein Aggregation of NPAS3, Implicated in Mental Illness, Is Not Limited to the V304I Mutation.

Samardžija B et al.

Journal of Personalized Medicine, 2021

Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.

Rossi JJ et al.

Scientific Reports, 2021

The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

Kolonko-Adamska M et al.

International Journal of Molecular Sciences, 2021

Protein misassembly and aggregation as potential convergence points for non-genetic causes of chronic mental illness.

Bradshaw NJ et al.

Molecular Psychiatry, 2019

Molecular analysis of NPAS3 functional domains and variants.

Luoma LM et al.

Bmc Molecular Biology, 2018

A Mutation in NPAS3 That Segregates with Schizophrenia in a Small Family Leads to Protein Aggregation.

Nucifora LG et al.

Molecular Neuropsychiatry, 2016

A mutation in NPAS3 segregates with mental illness in a small family.

Yu L et al.

Molecular Psychiatry, 2014

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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."