Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.N364H
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TYR

NM_000372.5:p.N364H

Associated Papers

Uncovering minimal pathways in melanoma initiation.

Xiao H et al.

Nature Communications, 2025

40571713 (PubMed )
Supplement: 41467_2025_60742_MOESM4_ESM.xlsx › Supplementary_Data_4

Baboon bearing resemblance in pigmentation pattern to Siamese cat carries a missense mutation in the tyrosinase gene.

Koga A et al.

Genome, 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

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Gao J et al.

Cell & Bioscience, 2017

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Simeonov DR et al.

Human Mutation, 2013

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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."