Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.P496S
Back to variants list

SREBF2

NM_004599.4:p.P496S

Associated Papers

Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.

Shaik NA et al.

Frontiers in Physiology, 2023

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."