Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D129E
Back to variants list

LDLR

NM_000527.5:p.D129E

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-2.xlsx › SuppTable2

IDOL G51S Variant Is Associated With High Blood Cholesterol and Increases Low-Density Lipoprotein Receptor Degradation.

Adi D et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

31597442 (PubMed )
Supplement: atvb_atvb-2019-312589_supp2.pdf

Distinct functional domains contribute to degradation of the low density lipoprotein receptor (LDLR) by the E3 ubiquitin ligase inducible Degrader of the LDLR (IDOL).

Sorrentino V et al.

The Journal of Biological Chemistry, 2011

The E3 ubiquitin ligase IDOL induces the degradation of the low density lipoprotein receptor family members VLDLR and ApoER2.

Hong C et al.

The Journal of Biological Chemistry, 2010

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."