Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.A50V
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DNAJB6

NM_058246.4:p.A50V

Associated Papers

Mutations in Hsp40 co-chaperone change the canonical interdomain interactions stimulating LGMDD1 myopathy.

Bhadra AK et al.

The Journal of Biological Chemistry, 2026

Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle.

Inoue M

Journal of Human Genetics, 2025

Mutations in Hsp40 co-chaperone change the unique canonical inter-domain interactions stimulating LGMDD1 myopathy.

Bhadra AK et al.

Biorxiv : the Preprint Server for Biology, 2025

DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones.

Abayev-Avraham M et al.

Nature Communications, 2023

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient.

Ji G et al.

Frontiers in Genetics, 2022

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Palmio J et al.

Neuromuscular Disorders : Nmd, 2020

Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain.

Pullen MY et al.

Plos One, 2020

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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."