Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V578A
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LDLR

NM_000527.5:p.V578A

Associated Papers

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

Ryu J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Villiger L et al.

Molecular Therapy. Nucleic Acids, 2021

34631280 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Sidore C et al.

Nature Genetics, 2015

Methods for association analysis and meta-analysis of rare variants in families.

Feng S et al.

Genetic Epidemiology, 2015

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.

Sanna S et al.

Plos Genetics, 2011

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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."