Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6
Variant:p.P20L
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HSPB6

NM_144617.3:p.P20L

Associated Papers

C-terminal extension of HSPB6 in a family with myopathy and cataract.

Sarparanta J et al.

Human Molecular Genetics, 2026

PTMD 2.0: an updated database of disease-associated post-translational modifications.

Huang X et al.

Nucleic Acids Research, 2025

39329270 (PubMed )
Supplement: gkae850_supplemental_files.zip › Table_S2.xlsx › Table_S2

Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry.

Pfeffer TJ et al.

International Journal of Cardiology, 2023

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

The Cardioprotective PKA-Mediated Hsp20 Phosphorylation Modulates Protein Associations Regulating Cytoskeletal Dynamics.

Vafiadaki E et al.

International Journal of Molecular Sciences, 2020

Regulation of BECN1-mediated autophagy by HSPB6: Insights from a human HSPB6S10F mutant.

Liu GS et al.

Autophagy, 2018

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Hebert E et al.

Genes, 2017

29057844 (PubMed )
Supplement: genes-08-00276-s001.pdf

Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend.

Haghighi K et al.

Journal of Molecular and Cellular Cardiology, 2014

The phosphorylation of Hsp20 enhances its association with amyloid-β to increase protection against neuronal cell death.

Cameron RT et al.

Molecular and Cellular Neurosciences, 2014

Identification of a protein phosphatase-1/phospholamban complex that is regulated by cAMP-dependent phosphorylation.

Vafiadaki E et al.

Plos One, 2013

Mutations of small heat shock proteins and human congenital diseases.

Datskevich PN et al.

Biochemistry. Biokhimiia, 2012

The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.

Boncoraglio A et al.

The International Journal of Biochemistry & Cell Biology, 2012

Human mutation in the anti-apoptotic heat shock protein 20 abrogates its cardioprotective effects.

Nicolaou P et al.

The Journal of Biological Chemistry, 2008

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites.

Benndorf R et al.

Mutation Research. Reviews in Mutation Research, 0

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