Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R165Q
Back to variants list

PCSK9

NM_174936.4:p.R165Q

Associated Papers

Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.

Zorn S et al.

Nature Medicine, 2025

Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

Kim HI et al.

American Journal of Human Genetics, 2020

32640185 (PubMed )
Supplement: 1-s2.0-S000292972030197X-mmc3.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
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."