Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.S184*
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TYR

NM_000372.5:p.S184*

Associated Papers

Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase.

Dolinska MB et al.

International Journal of Molecular Sciences, 2026

41752073 (PubMed )
Supplement: ijms-27-01937-s001.zip › ijms-4129480-supplementary.pdf

Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.

Cárdenas WA et al.

Plos One, 2024

Nonhuman Primate Model of Oculocutaneous Albinism with TYR and OCA2 Mutations.

Wu KC et al.

Research (washington, D.c.), 2020

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).

Galante Rocha de Vasconcelos FT et al.

Bmc Genetics, 2017

Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.

Urtatiz O et al.

Journal of Dermatological Science, 2014

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