Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W214R
Back to variants list

LDLR

NM_000527.5:p.W214R

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.

Reimund M et al.

Nature, 2025

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.

Ryu J et al.

Nature Genetics, 2024

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.

Ryu J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Functional analysis of six uncharacterised mutations in LDLR gene.

Gomez A et al.

Atherosclerosis, 2019

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."