Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.R402G
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TYR

NM_000372.5:p.R402G

Associated Papers

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Landi MT et al.

Nature Genetics, 2020

32341527 (PubMed )
Supplement: NIHMS1574209-supplement-2.xlsx › Supplementary_Table_3

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

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

Ghodsinejad Kalahroudi V et al.

Plos One, 2014

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."