Varaico: Literature-Extracted Genetic Variants

Gene:AFG2A
Variant:p.Y559*
Back to variants list

AFG2A

NM_145207.3:p.Y559*

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

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

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

Puusepp S et al.

European Journal of Human Genetics : Ejhg, 2018

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.

Unknown Author

European Journal of Human Genetics : Ejhg, 2017

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Tanaka AJ et al.

American Journal of Human Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."