Varaico: Literature-Extracted Genetic Variants

Gene:AFG2A
Variant:p.F323I
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AFG2A

NM_145207.3:p.F323I

Associated Papers

Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.

Dai Y et al.

Nature Communications, 2025

40268917 (PubMed )
Supplement: 41467_2025_58894_MOESM3_ESM.xlsx › 1._SPATA5

The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis to ensure genome integrity.

Krishnamoorthy V et al.

Cell, 2024

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.

Puusepp S et al.

European Journal of Human Genetics : Ejhg, 2018

Characterization of SPATA5-related encephalopathy in early childhood.

Kurata H et al.

Clinical Genetics, 2016

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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."