Varaico: Literature-Extracted Genetic Variants

Gene:CAPN7
Variant:p.C290S
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CAPN7

NM_014296.3:p.C290S

Associated Papers

The Calpain-7 protease functions together with the ESCRT-III protein IST1 within the midbody to regulate the timing and completion of abscission.

Paine EL et al.

Elife, 2023

Involvement of calpain-7 in epidermal growth factor receptor degradation via the endosomal sorting pathway.

Maemoto Y et al.

The Febs Journal, 2014

Calpain-7 binds to CHMP1B at its second α-helical region and forms a ternary complex with IST1.

Maemoto Y et al.

Journal of Biochemistry, 2011

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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."