Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.S541A
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FAM111A

NM_001312909.2:p.S541A

Associated Papers

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

Li D et al.

Jci Insight, 2025

Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes.

Palani S et al.

Nature Communications, 2024

Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.

Naicker D et al.

International Journal of Molecular Sciences, 2024

FAM111A regulates replication origin activation and cell fitness.

Rios-Szwed DO et al.

Life Science Alliance, 2023

Functions and evolution of FAM111 serine proteases.

Welter AL et al.

Frontiers in Molecular Biosciences, 2022

FAM111A induces nuclear dysfunction in disease and viral restriction.

Nie M et al.

Embo Reports, 2021

FAM111A protects replication forks from protein obstacles via its trypsin-like domain.

Kojima Y et al.

Nature Communications, 2020

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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."