Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.D76N
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SLC26A3

NM_000111.3:p.D76N

Associated Papers

Disease-relevant β2-microglobulin variants share a common amyloid fold.

Wilkinson M et al.

Nature Communications, 2023

Pathogenic D76N Variant of β2-Microglobulin: Synergy of Diverse Effects in Both the Native and Amyloid States.

Bulyáki É et al.

Biology, 2021

Dialysis-related amyloidosis associated with a novel β2-microglobulin variant.

Mizuno H et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021

The Early Phase of β2m Aggregation: An Integrative Computational Study Framed on the D76N Mutant and the ΔN6 Variant.

J S Loureiro R et al.

Biomolecules, 2019

Investigating the Molecular Basis of the Aggregation Propensity of the Pathological D76N Mutant of Beta-2 Microglobulin: Role of the Denatured State.

Visconti L et al.

International Journal of Molecular Sciences, 2019

The structure of a β2-microglobulin fibril suggests a molecular basis for its amyloid polymorphism.

Iadanza MG et al.

Nature Communications, 2018

Assessing the effect of D59P mutation in the DE loop region in amyloid aggregation propensity of β2-microglobulin: A molecular dynamics simulation study.

Narang SS et al.

Journal of Cellular Biochemistry, 2018

Decoding the Structural Bases of D76N ß2-Microglobulin High Amyloidogenicity through Crystallography and Asn-Scan Mutagenesis.

de Rosa M et al.

Plos One, 2015

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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."