Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.R153C
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TYRP1

NM_000550.3:p.R153C

Associated Papers

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Green DJ et al.

Nature Communications, 2024

39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1

Genetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype.

Peterson SM et al.

G3 (bethesda, Md.), 2023

37522525 (PubMed )
Supplement: jkad168_supplementary_data.zip › STables_Peterson_etal.xlsx › Supplementary_Table_1

Bear essentials.

Caro T

Trends in Genetics : Tig, 2023

Genetic architecture and evolution of color variation in American black bears.

Puckett EE et al.

Current Biology : Cb, 2023

In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.

Dolinska MB et al.

Protein Science : a Publication of the Protein Society, 2023

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Michaud V et al.

Nature Communications, 2022

35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.

Loftus SK et al.

Human Mutation, 2021

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Rayner JE et al.

Plos One, 2020

32966289 (PubMed )
Supplement: pone.0238529.s003.docx

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.

Nathan V et al.

Pigment Cell & Melanoma Research, 2019

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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."