Varaico: Literature-Extracted Genetic Variants

Gene:AFG2B
Variant:p.I466M
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AFG2B

NM_024063.3:p.I466M

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

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 › 2._SPATA5L1

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

Krishnamoorthy V et al.

Cell, 2024

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.

Ni C et al.

Biorxiv : the Preprint Server for Biology, 2024

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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."