Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.W236*
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TYR

NM_000372.5:p.W236*

Associated Papers

The Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage.

Ghosh Roy S et al.

Pigment Cell & Melanoma Research, 2025

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Green DJ et al.

Nature Communications, 2024

39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Michaud V et al.

Nature Communications, 2022

35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1

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 mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.

Badens C et al.

Journal of Dermatological Science, 2006

The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.

Oetting WS

Pigment Cell Research, 2000

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

Oetting WS et al.

Human Mutation, 1999

Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).

Oetting WS et al.

Pigment Cell Research, 1994

Molecular genetics of oculocutaneous albinism.

Spritz RA

Human Molecular Genetics, 1994

Molecular genetics of oculocutaneous albinism.

Spritz RA

Seminars in Dermatology, 1993

A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.

Oetting WS et al.

American Journal of Human Genetics, 1993

Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.

Oetting WS et al.

Human Mutation, 1993

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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."