Varaico: Literature-Extracted Genetic Variants

Gene:CLPB
Variant:p.R620C
Back to variants list

CLPB

NM_001258392.3:p.R620C

Associated Papers

Comprehensive structural characterization of the human AAA+ disaggregase CLPB in the apo- and substrate-bound states reveals a unique mode of action driven by oligomerization.

Wu D et al.

Plos Biology, 2023

Unique structural features govern the activity of a human mitochondrial AAA+ disaggregase, Skd3.

Cupo RR et al.

Cell Reports, 2022

Heterozygous variants of CLPB are a cause of severe congenital neutropenia.

Warren JT et al.

Blood, 2022

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."