Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.H367R
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TYR

NM_000372.5:p.H367R

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

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

Froment A et al.

Pigment Cell & Melanoma Research, 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

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

Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence.

Hassan M et al.

Molecular Biosystems, 2017

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

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

Oetting WS et al.

Pigment Cell Research, 1994

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