Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.G108C
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MCOLN1

NM_020533.3:p.G108C

Associated Papers

The second PI(3,5)P2 binding site in the S0 helix of KCNQ1 stabilizes PIP2-at the primary PI1 site with potential consequences on intermediate-to-open state transition.

Dellin M et al.

Biological Chemistry, 2023

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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."