Varaico: Literature-Extracted Genetic Variants

Gene:TPST2
Variant:p.H266Q
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TPST2

NM_003595.5:p.H266Q

Associated Papers

Genetic variation in thyroid folliculogenesis influences susceptibility to hypothyroidism-induced hearing impairment.

Mortensen AH et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2019

Crystal structure of human tyrosylprotein sulfotransferase-2 reveals the mechanism of protein tyrosine sulfation reaction.

Teramoto T et al.

Nature Communications, 2013

A common African polymorphism abolishes tyrosine sulfation of human anionic trypsinogen (PRSS2).

Rónai Z et al.

The Biochemical Journal, 2009

A mutation in Tpst2 encoding tyrosylprotein sulfotransferase causes dwarfism associated with hypothyroidism.

Sasaki N et al.

Molecular Endocrinology (baltimore, Md.), 2007

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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."