Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S475A
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TPP1

NM_000391.4:p.S475A

Associated Papers

Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.

Golabek AA et al.

The Journal of Biological Chemistry, 2003

The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH.

Lin L et al.

The Journal of Biological Chemistry, 2001

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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."