Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E27D
Back to variants list

TTR

NM_000371.4:p.E27D

Associated Papers

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.

Lomoio U et al.

Npj Systems Biology and Applications, 2025

40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Bhatt K et al.

Journal of the American Heart Association, 2024

39575713 (PubMed )
Supplement: JAH3-13-e033770-s001.pdf

Mispacking of the F87 sidechain drives aggregation-promoting conformational fluctuations in the subunit interfaces of the transthyretin tetramer.

Sun X et al.

Protein Science : a Publication of the Protein Society, 2024

Mispacking of the F87 sidechain drives aggregation-promoting conformational fluctuations in the subunit interfaces of the transthyretin tetramer.

Sun X et al.

Biorxiv : the Preprint Server for Biology, 2024

Probing the Dissociation Pathway of a Kinetically Labile Transthyretin Mutant.

Sun X et al.

Journal of the American Chemical Society, 2024

Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country.

Koutsis G et al.

Neuromuscular Disorders : Nmd, 2021

Thermodynamic Stability and Aggregation Kinetics of EF Helix and EF Loop Variants of Transthyretin.

Ferguson JA et al.

Biochemistry, 2021

Tenosynovial and Cardiac Amyloidosis in Patients Undergoing Carpal Tunnel Release.

Sperry BW et al.

Journal of the American College of Cardiology, 2018

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."