Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.D76N
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P3H3

NM_014262.5:p.D76N

Associated Papers

Visualizing the impact of disease-associated mutations on G protein-nucleotide interactions.

Anazia K et al.

Biorxiv : the Preprint Server for Biology, 2024

38352316 (PubMed )
Supplement: NIHPP2024.01.30.578006v1-supplement-1.pdf

Investigation of D76N β2-Microglobulin Using Protein Footprinting and Structural Mass Spectrometry.

Cornwell O et al.

Journal of the American Society for Mass Spectrometry, 2021

The folding space of proteinβ2-microglobulin is modulated by a single disulfide bridge.

Morand J et al.

Physical Biology, 2021

Systemic amyloidosis: lessons from β2-microglobulin.

Stoppini M et al.

The Journal of Biological Chemistry, 2015

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

de Rosa M et al.

Plos One, 2015

Structure, folding dynamics, and amyloidogenesis of D76N β2-microglobulin: roles of shear flow, hydrophobic surfaces, and α-crystallin.

Mangione PP et al.

The Journal of Biological Chemistry, 2013

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