Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.E781K
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UNC45B

NM_001267052.2:p.E781K

Associated Papers

UNC-82/NUAK kinase is required by myosin A, but not myosin B, to assemble and function in the thick filament arms of C. elegans striated muscle.

Schiller NR et al.

Cytoskeleton (hoboken, N.j.), 2024

Mutations in conserved residues of the myosin chaperone UNC-45 result in both reduced stability and chaperoning activity.

Moncrief T et al.

Protein Science : a Publication of the Protein Society, 2021

Molecular features of the UNC-45 chaperone critical for binding and folding muscle myosin.

Hellerschmied D et al.

Nature Communications, 2019

31636255 (PubMed )
Supplement: 41467_2019_12667_MOESM3_ESM.pdf

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.

Hansen L et al.

European Journal of Human Genetics : Ejhg, 2014

Challenging muscle homeostasis uncovers novel chaperone interactions in Caenorhabditis elegans.

Frumkin A et al.

Frontiers in Molecular Biosciences, 2014

The myosin chaperone UNC-45 is organized in tandem modules to support myofilament formation in C. elegans.

Gazda L et al.

Cell, 2013

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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."