Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.S192A
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TYR

NM_000372.5:p.S192A

Associated Papers

Multiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism.

Lv S et al.

The Journal of Investigative Dermatology, 2025

The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation.

Brohl AS et al.

Scientific Reports, 2017

29118384 (PubMed )
Supplement: 41598_2017_15183_MOESM1_ESM.pdf

Identification of active site residues involved in metal cofactor binding and stereospecific substrate recognition in Mammalian tyrosinase. Implications to the catalytic cycle.

Olivares C et al.

Biochemistry, 2002

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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."