Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.H180N
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TYR

NM_000372.5:p.H180N

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

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

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

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Opitz S et al.

Human Mutation, 2004

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