Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.C270S
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SDS

NM_006843.3:p.C270S

Associated Papers

TFEB-nuclear translocation promotes BNIP3-mediated mitophagy and alleviates oxidative stress and ferroptosis in acute pancreatitis.

Zhang H et al.

Free Radical Biology & Medicine, 2026

Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter.

van Wering HM et al.

The Journal of Biological Chemistry, 2002

Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

Yeowell HN et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2000

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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."