Varaico: Literature-Extracted Genetic Variants

Gene:ORC1
Variant:p.R720Q
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ORC1

NM_004153.4:p.R720Q

Associated Papers

Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.

Yang R et al.

The Journal of Biological Chemistry, 2025

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.

Li Q et al.

Orphanet Journal of Rare Diseases, 2024

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.

Nielsen-Dandoroff E et al.

European Journal of Human Genetics : Ejhg, 2023

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Multiple, short protein binding motifs in ORC1 and CDC6 control the initiation of DNA replication.

Hossain M et al.

Molecular Cell, 2021

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M et al.

International Journal of Molecular Sciences, 2021

33477564 (PubMed )
Supplement: ijms-22-00911-s001.zip › Updated_Supplementary_Tables_011721 › Supplementary_Table_S1_final_version.xlsx › MGS

Structure of the active form of human origin recognition complex and its ATPase motor module.

Tocilj A et al.

Elife, 2017

Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.

Hossain M et al.

Genes & Development, 2012

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

Bicknell LS et al.

Nature Genetics, 2011

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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."