Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.R116P
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HSPB3

NM_006308.3:p.R116P

Associated Papers

Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.

Laurini C et al.

Brain : a Journal of Neurology, 2025

Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.

Benndorf R et al.

Cell Stress & Chaperones, 2022

35678958 (PubMed )
Supplement: 12192_2022_1268_MOESM2_ESM.pdf

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

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.

Tiago T et al.

Cell Death & Disease, 2021

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

Scarlino S et al.

International Journal of Molecular Sciences, 2020

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Terminal Regions Confer Plasticity to the Tetrameric Assembly of Human HspB2 and HspB3.

Clark AR et al.

Journal of Molecular Biology, 2018

Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function.

Morelli FF et al.

Cell Reports, 2017

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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