Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.S145I
Back to variants list

NSDHL

NM_015922.3:p.S145I

Associated Papers

Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.

Fenton NM et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2025

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."