Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.R788S
Back to variants list

CAPN3

NM_000070.3:p.R788S

Associated Papers

Oligomer-dependent and -independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.

Hisatsune C et al.

The Journal of Biological Chemistry, 2026

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.

Rico A et al.

Orphanet Journal of Rare Diseases, 2023

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."