Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.M33V
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TTR

NM_000371.4:p.M33V

Associated Papers

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

Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.

Nomura T et al.

Orphanet Journal of Rare Diseases, 2025

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

Distinct Patterns of Amyloid Pathology in Autopsies of Transthyretin S77Y and A97S Amyloidosis: Significance of Symptomatology and Cell Biology.

Chang K et al.

Journal of Neuropathology and Experimental Neurology, 2022

TTRMDB: A database for structural and functional analysis on the impact of SNPs over transthyretin (TTR) using bioinformatic tools.

Srinivasan E et al.

Computational Biology and Chemistry, 2020

Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.

Yamashita T et al.

Journal of Neurology, 2018

Characterization of Non-amyloidogenic G101S Transthyretin.

Wakita Y et al.

Biological & Pharmaceutical Bulletin, 2018

D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis?

Hammarström P et al.

Biochemistry, 2003

Structural distribution of mutations associated with familial amyloidotic polyneuropathy in human transthyretin.

Eneqvist T et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2001

Transthyretin mutations in health and disease.

Saraiva MJ

Human Mutation, 1995

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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."