Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.W162*
Back to variants list

GOT2

NM_002080.4:p.W162*

Associated Papers

Loss of dihydroceramide desaturase drives neurodegeneration by disrupting endoplasmic reticulum and lipid droplet homeostasis in glial cells.

Zhu Y et al.

Elife, 2025

Loss of dihydroceramide desaturase drives neurodegeneration by disrupting endoplasmic reticulum and lipid droplet homeostasis in glial cells.

Zhu Y et al.

Biorxiv : the Preprint Server for Biology, 2025

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Li A et al.

American Journal of Human Genetics, 2004

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."