Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.Y134H
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TTR

NM_000371.4:p.Y134H

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

Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report.

Itogawa K et al.

Respiratory Medicine Case Reports, 2025

Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.

Matsushima M et al.

Internal Medicine (tokyo, Japan), 2023

Efficient Generation of Pathogenic A-to-G Mutations in Human Tripronuclear Embryos via ABE-Mediated Base Editing.

Li G et al.

Molecular Therapy. Nucleic Acids, 2019

31279230 (PubMed )
Supplement: mmc2.pdf

Electrophysiological demyelinating features in hereditary ATTR amyloidosis.

Ohashi N et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.

Waddington-Cruz M et al.

Orphanet Journal of Rare Diseases, 2019

30736835 (PubMed )
Supplement: 13023_2019_1000_MOESM1_ESM.docx

Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.

Iorio A et al.

Bmc Genomics, 2017

28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf

Pathological, biochemical, and biophysical characteristics of the transthyretin variant Y114H (p.Y134H) explain its very mild clinical phenotype.

Sekijima Y et al.

Journal of the Peripheral Nervous System : Jpns, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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