Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6
Variant:p.C46S
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HSPB6

NM_144617.3:p.C46S

Associated Papers

Mutations in HspB1 and hereditary neuropathies.

Muranova LK et al.

Cell Stress & Chaperones, 2020

Characterization of human small heat shock protein HSPB1 α-crystallin domain localized mutants associated with hereditary motor neuron diseases.

Weeks SD et al.

Scientific Reports, 2018

Specific sequences in the N-terminal domain of human small heat-shock protein HSPB6 dictate preferential hetero-oligomerization with the orthologue HSPB1.

Heirbaut M et al.

The Journal of Biological Chemistry, 2017

A Mechanism of Subunit Recruitment in Human Small Heat Shock Protein Oligomers.

Delbecq SP et al.

Biochemistry, 2015

Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.

Muranova LK et al.

Plos One, 2015

Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.

Nefedova VV et al.

Biochimie, 2013

The pivotal role of the beta 7 strand in the intersubunit contacts of different human small heat shock proteins.

Mymrikov EV et al.

Cell Stress & Chaperones, 2010

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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."