Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L84R
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APOA1

NM_000039.3:p.L84R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Delineating the impact of pathogenic mutations on the conformational dynamics of HDL's vital protein ApoA1: a combined computational and molecular dynamic simulation approach.

Bhale AS et al.

Journal of Biomolecular Structure & Dynamics, 2023

Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.

Zanoni P et al.

Current Opinion in Lipidology, 2020

Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.

Taipale M

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Mutation mapping of apolipoprotein A-I structure assisted with the putative cholesterol recognition regions.

Dergunov AD

Biochimica Et Biophysica Acta, 2013

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