Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.V189D
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TYRP1

NM_000550.3:p.V189D

Associated Papers

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

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

Set2 methyltransferase facilitates cell cycle progression by maintaining transcriptional fidelity.

Dronamraju R et al.

Nucleic Acids Research, 2018

29294086 (PubMed )
Supplement: gkx1276_supp.zip › nar-02034-m-2017-File005.xlsx › Sheet1

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.

Khan AO et al.

Clinical Genetics, 2016

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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."