Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.D423A
Back to variants list

HSPD1

NM_002156.5:p.D423A

Associated Papers

HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis.

Cömert C et al.

Molecular Metabolism, 2024

A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.

Bie AS et al.

Cell Stress & Chaperones, 2011

The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.

Bross P et al.

The Journal of Biological Chemistry, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."