Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.H202R
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TYR

NM_000372.5:p.H202R

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

Current landscape of Oculocutaneous Albinism in Japan.

Okamura K et al.

Pigment Cell & Melanoma Research, 2021

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

Functional in silico analysis of human tyrosinase and OCA1 associated mutations.

Patel M et al.

Journal of Analytical & Pharmaceutical Research, 2020

Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Farney SK et al.

Journal of Analytical & Pharmaceutical Research, 2018

Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence.

Hassan M et al.

Molecular Biosystems, 2017

Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.

Mondal M et al.

The British Journal of Dermatology, 2016

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Ghodsinejad Kalahroudi V et al.

Plos One, 2014

Molecular cloning, sequence characteristics, and polymorphism analyses of the tyrosinase-related protein 2 / DOPAchrome tautomerase gene of black-boned sheep (Ovis aries).

Deng W et al.

Genome, 2009

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Hutton SM et al.

The Journal of Investigative Dermatology, 2008

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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."