Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A65S
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TTR

NM_000371.4:p.A65S

Associated Papers

Efficacy of Acoramidis in Wild-Type and Variant Transthyretin Amyloid Cardiomyopathy: Results From ATTRibute-CM and Its Open-Label Extension.

Alexander KM et al.

Jama Cardiology, 2026

41205147 (PubMed )
Supplement: jamacardiol-e254477-s001.pdf

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

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.

González-Moreno J et al.

Cardiology and Therapy, 2024

A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report.

Thimm A et al.

Bmc Neurology, 2022

Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.

Patel JK et al.

Neurology and Therapy, 2022

Phenotypic characterization of late onset cardiac amyloidosis caused by the transthyretin mutation TTRA45S, p.(Ala65Ser).

Müllertz KM et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2017

Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.

Suhr OB et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2009

Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).

Klaassen SHC et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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