Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.D439N
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FAM111A

NM_001312909.2:p.D439N

Associated Papers

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

Li D et al.

Jci Insight, 2025

Disruption of the c-terminal serine protease domain of Fam111a does not alter calcium homeostasis in mice.

Tan RSG et al.

Physiological Reports, 2024

FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.

Hoffmann S et al.

Embo Reports, 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."