Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.R129H
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C2

NM_000063.6:p.R129H

Associated Papers

Loop engineering of enzymes to control their immobilization and ultimately fabricate more efficient heterogeneous biocatalysts.

Zeballos N et al.

Protein Science : a Publication of the Protein Society, 2025

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

34893635 (PubMed )
Supplement: 41531_2021_258_MOESM1_ESM.pdf

Gain-of-function mutation in complement C2 protein identified in a patient with aHUS.

Urban A et al.

The Journal of Allergy and Clinical Immunology, 2020

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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."