Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.R93C
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TYRP1

NM_000550.3:p.R93C

Associated Papers

Rare variants modulating phenotype in NF1 carriers.

Pasquinelli E et al.

Scientific Reports, 2025

40653509 (PubMed )
Supplement: 41598_2025_9751_MOESM1_ESM.pdf

Human biological variation and the "normal".

Graves JL

American Journal of Human Biology : the Official Journal of the Human Biology Council, 2021

Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish.

Bian C et al.

Frontiers in Genetics, 2021

Structure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis.

Lai X et al.

Angewandte Chemie (international Ed. in English), 2017

The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1 locus on chromosome 8.

Becker D et al.

Animal Genetics, 2015

Ancient homology underlies adaptive mimetic diversity across butterflies.

Gallant JR et al.

Nature Communications, 2014

25198507 (PubMed )
Supplement: ncomms5817-s2.xlsx › Table_S5_-_selected_genes

Distribution of an allele associated with blond hair color across Northern Island Melanesia.

Norton HL et al.

American Journal of Physical Anthropology, 2014

In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.

Kamaraj B et al.

Biomed Research International, 2013

Melanesian blond hair is caused by an amino acid change in TYRP1.

Kenny EE et al.

Science (new York, N.y.), 2012

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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."