Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.C289G
Back to variants list

TYR

NM_000372.5:p.C289G

Associated Papers

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Xu C et al.

Journal of Clinical Laboratory Analysis, 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

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."