Varaico: Literature-Extracted Genetic Variants

Gene:CAPN2
Variant:p.C105S
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CAPN2

NM_001748.5:p.C105S

Associated Papers

Insertion sequence 1 from calpain-3 is functional in calpain-2 as an internal propeptide.

McCartney CE et al.

The Journal of Biological Chemistry, 2018

Calpain 2 activation of P-TEFb drives megakaryocyte morphogenesis and is disrupted by leukemogenic GATA1 mutation.

Elagib KE et al.

Developmental Cell, 2013

Concerted multi-pronged attack by calpastatin to occlude the catalytic cleft of heterodimeric calpains.

Moldoveanu T et al.

Nature, 2008

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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."