Varaico: Literature-Extracted Genetic Variants

Gene:MORC2
Variant:p.E27K
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MORC2

NM_001303256.3:p.E27K

Associated Papers

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Peymani F et al.

Brain : a Journal of Neurology, 2026

40302207 (PubMed )
Supplement: awaf159_supplementary_data.zip › brain-2025-00099-File009.xlsx › In-house_cohort_of_MORC2_patien

Biological functions and molecular mechanisms of MORC2 in human diseases.

Zhao X et al.

Molecules and Cells, 2025

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Stafki SA et al.

Pediatric Neurology, 2023

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Kistol D et al.

International Journal of Molecular Sciences, 2023

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Mirchi A et al.

Neurogenetics, 2022

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

French CE et al.

Hgg Advances, 2022

35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

Musante L et al.

Genes, 2022

Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.

Jacquier A et al.

Frontiers in Cellular Neuroscience, 2022

MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.

Yang H et al.

Medicine, 2021

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.

Sivera R et al.

European Journal of Neurology, 2021

A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.

Vujovic D et al.

Journal of the Peripheral Nervous System : Jpns, 2021

Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Bao C et al.

Frontiers in Oncology, 2021

34221990 (PubMed )
Supplement: Table_9.xlsx › Table_S9
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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."