Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.M370T
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TYR

NM_000372.5:p.M370T

Associated Papers

First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.

Froment A et al.

Pigment Cell & Melanoma Research, 2026

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

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

Mutational analysis of oculocutaneous albinism: a compact review.

Kamaraj B et al.

Biomed Research International, 2014

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

Ghodsinejad Kalahroudi V et al.

Plos One, 2014

Mutational analysis of TYR gene and its structural consequences in OCA1A.

K B et al.

Gene, 2013

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

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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."