Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.G361A
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TYRP1

NM_000550.3:p.G361A

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

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

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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